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1.
Int. j. morphol ; 40(3): 796-800, jun. 2022. ilus
Artículo en Inglés | LILACS | ID: biblio-1385687

RESUMEN

SUMMARY: The atlanto-occipital joint is composed of the superior fossa of the lateral masses of the atlas (C1) and the occipital condyles. Congenital Atlanto-occipital fusion (AOF) involves the osseous union of the base of the occiput (C0) and the atlas (C1). AOF or atlas occipitalization/assimilation represents a craniovertebral junction malformation (CVJM) which can be accompanied by other cranial or spinal malformations. AOF may be asymptomatic or patients may experience symptoms from neural compression as well as limited neck movement. The myodural bridge (MDB) complex is a dense fibrous structure that connects the suboccipital muscular and its related facia to the cervical spinal dura mater, passing through both the posterior atlanto-occipital and atlanto-axial interspaces. It is not known if atlas occipitilization can induce structural changes in the MDB complex and its associated suboccipital musculature. The suboccipital region of a cadaveric head and neck specimen from an 87-year-old Chinese male having a congenital AOF malformation with resultant changes to the MDB complex was observed. After being treated with the P45 plastination method, multiple slices obtained from the cadaveric head and neck specimen were examined with special attention paid to the suboccipital region and the CVJM. Congenital atlanto-occipital fusion malformations are defined as partial or complete fusion of the base of the occiput (C0) with the atlas (C1). In the present case of CVJM, unilateral fusion of the left occipital condyle with the left lateral mass of C1 was observed, as well as posterior central fusion of the posterior margin of the foramen magnum with the posterior arch of C1. Also noted was a unilateral variation of the course of the vertebral artery due to the narrowed posterior atlanto-occipital interspace. Surprisingly, complete agenesis of the rectus capitis posterior minor (RCPmi) and the obliques capitis superior (OCS) muscles was also observed in the plastinated slices. Interestingly, the MDB, which normally originates in part from the RCPmi muscle, was observed to originate from a superior bifurcation within an aspect of the nuchal ligament. Therefore, the observed changes involving the MDB complex appear to be an effective compensation to the suboccipital malformations.


RESUMEN: La articulación atlanto-occipital está compuesta por las caras articulares superiores de las masas laterales del atlas (C1) y los cóndilos occipitales. La fusión atlanto-occipital congénita (FAO) implica la unión ósea de la base del occipucio (C0) y el atlas (C1). La FAO u occipitalización/asimilación del atlas representa una malformación de la unión craneovertebral (MUCV) que puede presentar otras malformaciones craneales o espinales. La FAO puede ser asintomática o los pacientes pueden experimentar síntomas de compresión neural así como movimiento limitado del cuello. El complejo del puente miodural (PMD) es una estructura fibrosa densa que conecta el músculo suboccipital y su fascia relacionada con la duramadre espinal cervical, pasando a través de los espacios intermedios atlanto-occipital posterior y atlanto-axial. No se sabe si la occipitilización del atlas puede inducir cambios estructurales en el complejo PMD y en la musculatura suboccipital. Se observó en la región suboccipital de un espécimen cadavérico, cabeza y cuello de un varón chino de 87 años con una malformación congénita de FAO con los cambios resultantes en el complejo PMD. Se examinaron múltiples cortes obtenidos de la muestra de cabeza y cuello después de ser tratados con el método de plastinación P45, con especial atención a la región suboccipital y la MUCV. Las malformaciones congénitas por fusión atlanto-occipital se definen como la fusión parcial o completa de la base del occipucio (C0) con el atlas (C1). En el presente caso de MUCV se observó la fusión unilateral del cóndilo occipital izquierdo con la masa lateral izquierda de C1, así como fusión posterior central del margen posterior del foramen magnum con el arco posterior de C1. También se observó una variación unilateral del curso de la arteria vertebral por el estrechamiento del espacio interatlanto-occipital posterior. Se observó además agenesia completa de los músculos Rectus capitis posterior minor (RCPmi) y oblicuos capitis superior (OCS) en los cortes plastinados. Curiosamente, se observó que el MDB, que normalmente se origina en parte del músculo RCPmi, se origina en una bifurcación superior dentro de un aspecto del ligamento nucal. Por lo tanto, los cambios observados en el complejo PMD parecen ser una compensación de las malformaciones suboccipitales.


Asunto(s)
Humanos , Masculino , Anciano de 80 o más Años , Articulación Atlantooccipital/anomalías , Cráneo/anomalías , Vértebras Cervicales/anomalías , Plastinación/métodos , Cadáver
4.
Surg Radiol Anat ; 42(2): 121-125, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31664469

RESUMEN

The posterior arch defects of the cervical spine are rare, and they arise out of deviations of the normal intrauterine development of the spine (4-8 weeks of development). The defects range from a cleft to the total agenesis of the posterior arch, with a reported prevalence of 4% and 0.15%, respectively. The pedicle agenesis is most frequently found in C6. A diagnosis is usually made after a traumatic incident in a previously asymptomatic patient. 35% of a patient's current symptoms are associated with instability or translation of the impaired vertebral segments like headaches, chronic pain, and neurological impairment. The clinical and radiological findings of a patient with an unusual and complex cervical spine malformation are reported. These are rare entities and seldom require surgical treatment. It is imperative for spine surgeons to be aware of these anatomical abnormalities to avoid misinterpretation and thus inappropriate treatment, particularly in acute trauma patients.


Asunto(s)
Vértebras Cervicales/anomalías , Cuello/anomalías , Fusión Vertebral , Placas Óseas , Vértebras Cervicales/diagnóstico por imagen , Vértebras Cervicales/cirugía , Femenino , Humanos , Imagen por Resonancia Magnética , Cuello/diagnóstico por imagen , Cuello/cirugía , Tomografía Computarizada por Rayos X , Resultado del Tratamiento , Adulto Joven
5.
Arq. bras. neurocir ; 38(4): 328-335, 15/12/2019.
Artículo en Inglés | LILACS | ID: biblio-1362502

RESUMEN

Objectives Accessory C1 and C2 facet joints are very rare. Only few cases were reported in the literature.We report a case of bilateral accessory facets in an adult with special attention to clinical, neuroradiological, as well as peroperative findings. Case report A 37-year-old male presented with progressive quadriparesis. Radiology revealed bilateral posterior accessory C1 and C2 facet joints compressing the spinal cord with craniovertebral junction (CVJ) instability. Both accessory C1 and C2 facets with the posterior arch of the C1 were removed. Lateral mass screws and plates fixation at the C1 and C2 level, as well as fusion, were performed. Postoperatively, the patient recovered well. Conclusion In accessory C1 and C2 facet joints, when symptomatic, neuroradiological findings can guide to the proper diagnosis, to pathological understanding, and, ultimately, to management strategy.


Asunto(s)
Humanos , Masculino , Adulto , Cuadriplejía/diagnóstico por imagen , Compresión de la Médula Espinal/diagnóstico por imagen , Vértebras Cervicales/anomalías , Articulación Cigapofisaria/anomalías , Resultado del Tratamiento , Descompresión Quirúrgica/métodos
6.
Dentomaxillofac Radiol ; 48(8): 20190085, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31271540

RESUMEN

OBJECTIVES: This study investigated the association of congenital cervical vertebrae anomalies (CVA) with the prevalence of cleft lip and palate (CLP) specifying the most frequent associations. METHODS: A meta-analysis was based on the Preferred Reporting Items of Systematic reviews and Meta-Analyses guideline. A search of the PubMed, Embase, Web of Science, Science Direct, Scopus and Lilacs database was performed until March 2018. Clinical studies that evaluated CVA in individuals with CLP (experimental group) and without CLP (control group) was included. For the statistical analysis, the software Comprehensive Meta-Analysis (Biostat; Englewood, NJ) was used, with a p-value < 0.05 considered significant. RESULTS: A total of 10 articles were included, for a total of 2566 individuals with CLP and 2301 individuals without CLP. The meta-analysis indicated statistically significant differences and the group of individuals with CLP had an increased number of CVA when compared to the group of individuals without CLP (p < 0.05; 95% confidence interval, 2.41-6.11; heterogeneity: Q-value 32.8, I2 72.6%). CONCLUSIONS: This study indicated that CVA are associated with the presence of CLP. Among the patients with CVA the most frequent anomalies were the deficiency of the posterior arch, followed by the fusion of cervical vertebrae. Individuals with cleft palate and those with unilateral cleft lip and palateCLP had an increased prevalence of CVA.


Asunto(s)
Vértebras Cervicales , Labio Leporino , Fisura del Paladar , Vértebras Cervicales/anomalías , Labio Leporino/complicaciones , Fisura del Paladar/complicaciones , Humanos , Prevalencia
7.
Rev Chil Pediatr ; 90(2): 194-201, 2019 Apr.
Artículo en Español | MEDLINE | ID: mdl-31095236

RESUMEN

INTRODUCTION: Klippel-Feil syndrome is a highly heterogeneous complex skeletal disorder characterized by the con genital fusion of two or more cervical vertebrae. The classic clinical triad consists of a short neck, low hairline, and neck movements limitation. The associated mutations are located in the loci of the GDF3 gene (chromosome 12p13.31), GDF6 (chromosome 8q22.1), and MEOX1 (chromosome 17q21.31). OBJECTIVE: To describe the clinical-radiological findings and pedigree of a patient with Klippel-Feil syndrome. CLINICAL CASE: A 5-year-old patient with short neck, low posterior hairline, and limitation of lateral movements. The cervical flexion and extension radiographs showed fusion blocks between C1-2-3, C4-5, and C6-7. The chest CT scan showed multiple hemivertebrae in the upper third of the thoracic vertebrae corresponding to ribs I-IV. The karyotype was normal, 46, XX. Reduced penetrance was present in five of the family members. The fusion of C2-3 was present in four members and one individual had low fusion in C5-6. Three of the five affected individuals had a fusion between the capitate and the hamate bone. CONCLUSION: The malformation of congenital vertebral segmentation is a case of interest since it is an uncommon diagnosis in the pediatric age and whose clinical suspicion can be generated from the clinical examination, radiological study com plemented with the pedigree interpretation in Mendelian inheritance disorders, allowing to provide opportunely genetic counseling to the family.


Asunto(s)
Vértebras Cervicales/anomalías , Síndrome de Klippel-Feil/diagnóstico , Vértebras Torácicas/anomalías , Vértebras Cervicales/diagnóstico por imagen , Preescolar , Femenino , Humanos , Vértebras Torácicas/diagnóstico por imagen
8.
Rev. chil. pediatr ; 90(2): 194-201, abr. 2019. tab, graf
Artículo en Español | LILACS | ID: biblio-1003737

RESUMEN

INTRODUCCIÓN: El síndrome de Klippel-Feil constituye un desorden esquelético complejo altamente heterogéneo caracterizado por la fusión congénita de dos o más vértebras cervicales. La triada clínica clásica consiste en cuello corto, implantación baja del cabello y limitación para los movimientos del cue llo. Las mutaciones asociadas se localizan en los loci del gen GDF3 (cromosoma 12p13.31), GDF6 (cromosoma 8q22.1) y MEOX1 (cromosoma 17q21.31). OBJETIVO: Describir los hallazgos clínico- radiológicos y genealogía de una paciente con síndrome de Klippel-Feil. CASO CLÍNICO: Paciente de 5 años de edad con cuello corto, cabello de implantación baja posterior, limitación para los movimientos de lateralización. La radiografía cervical en flexión y extensión evidenció bloques de fusión entre C1-2-3, C4-5 y C6-7. En la tomografía axial computarizada de tórax se apreció múltiples hemivértebras del tercio superior de las vértebras torácicas correspondientes a las costillas I-IV. El cariotipo fue normal, 46, XX. La penetrancia reducida estuvo presente en cinco de los miembros de la familia. La fusión de C2-3 predominó en cuatro y en un individuo la fusión baja en C5-6. Tres de los cinco individuos afectados tenían fusión entre el hueso grande y ganchoso. CONCLUSIÓN: La malformación de segmentación vertebral congénita constituye un caso de interés por tratarse de un diagnóstico infrecuente en la edad pediátrica y cuya sospecha puede generarse a partir del examen clínico, estudio de imágenes complementado con la interpretación de la genealogía en los trastornos de herencia mendeliana, permitiendo brindar un oportuno asesoramiento genético a la familia.


INTRODUCTION: Klippel-Feil syndrome is a highly heterogeneous complex skeletal disorder characterized by the con genital fusion of two or more cervical vertebrae. The classic clinical triad consists of a short neck, low hairline, and neck movements limitation. The associated mutations are located in the loci of the GDF3 gene (chromosome 12pl3.31), GDF6 (chromosome 8q22.1), and MEOXI (chromosome 17q21.31). OBJECTIVE: To describe the clinical-radiological findings and pedigree of a patient with Klippel-Feil syndrome. CLINICAL CASE: A 5-year-old patient with short neck, low posterior hairline, and limitation of lateral movements. The cervical flexion and extension radiographs showed fusion blocks between C1-2-3, C4-5, and C6-7. The chest CT scan showed multiple hemivertebrae in the upper third of the thoracic vertebrae corresponding to ribs 1-tv. The karyotype was normal, 46, XX. Reduced penetrance was present in five of the family members. The fusion of C2-3 was present in four members and one individual had low fusion in C5-6. Three of the five affected individuals had a fusion between the capitate and the hamate bone. CONCLUSION: The malformation of congenital vertebral segmentation is a case of interest since it is an uncommon diagnosis in the pediatric age and whose clinical suspicion can be generated from the clinical examination, radiological study com plemented with the pedigree interpretation in Mendelian inheritance disorders, allowing to provide opportunely genetic counseling to the family.


Asunto(s)
Humanos , Femenino , Preescolar , Vértebras Torácicas/anomalías , Vértebras Cervicales/anomalías , Síndrome de Klippel-Feil/diagnóstico , Vértebras Torácicas/diagnóstico por imagen , Vértebras Cervicales/diagnóstico por imagen
9.
Acta sci. vet. (Impr.) ; 46(supl): 1-5, 2018. ilus
Artículo en Portugués | VETINDEX | ID: biblio-1457937

RESUMEN

Background: The occurrence of congenital defects in the sheep is estimated to be between 0.2% and 2%. For congenital anatomical alterations, diagnostic imaging allows objective understanding and evaluation, and is a great aid in the formulation of clinical decisions. Most of these anomalies are diagnosed by radiography; but computed tomography (CT) can provide important additional information. In the current literature there are no descriptions of the use of radiography and CT for a more detailed evaluation of the anatomical structures in cases of congenital cervical malformations in lambs. The objective of this study is to report the clinical, radiographic and tomographic findings in two cases of congenital cervical vertebral malformation in lambs.Cases: Two lambs with cervical morphological alterations since birth were attended. A 4-month-old mixed-breed lamb, weighing 11 kg, with lateroventrocaudal deviation of the neck was observed to the right side, not yielding to the attempt of repositioning. The owner reported that these changes were identified since birth, leading to difficulties in suckling colostrum, necessitating artificial feeding. With the growth of the animal, worsening of the cervical deviation resulted in the impossibility of grazing. The radiographs of the cervical spine identified marked scoliosis, and the axis presented small dimensions and morphological changes with a slight loss of atlantoaxial articular relationship. Spondylopathies were detected along the cervical spine. Other lamb of the Lacaune breed, weighing 4.2 kg, was presented shortly after birth with changes in the shape and posture of the neck, difficult locomotion and in sternal decubitus. The owner reported that the lamb came from a twin eutocic birth, with the other lamb being apparently normal. The animal was unable to ingest the colostrum, in which the sheep was milked and colostrum was offered through a bottle.[...]


Asunto(s)
Animales , Anomalías Congénitas/veterinaria , Ovinos , Vértebras Cervicales/anomalías , Vértebras Cervicales/embriología , Tomografía Computarizada por Rayos X/veterinaria
10.
Acta sci. vet. (Online) ; 46(supl): 1-5, 2018. ilus
Artículo en Portugués | VETINDEX | ID: vti-17883

RESUMEN

Background: The occurrence of congenital defects in the sheep is estimated to be between 0.2% and 2%. For congenital anatomical alterations, diagnostic imaging allows objective understanding and evaluation, and is a great aid in the formulation of clinical decisions. Most of these anomalies are diagnosed by radiography; but computed tomography (CT) can provide important additional information. In the current literature there are no descriptions of the use of radiography and CT for a more detailed evaluation of the anatomical structures in cases of congenital cervical malformations in lambs. The objective of this study is to report the clinical, radiographic and tomographic findings in two cases of congenital cervical vertebral malformation in lambs.Cases: Two lambs with cervical morphological alterations since birth were attended. A 4-month-old mixed-breed lamb, weighing 11 kg, with lateroventrocaudal deviation of the neck was observed to the right side, not yielding to the attempt of repositioning. The owner reported that these changes were identified since birth, leading to difficulties in suckling colostrum, necessitating artificial feeding. With the growth of the animal, worsening of the cervical deviation resulted in the impossibility of grazing. The radiographs of the cervical spine identified marked scoliosis, and the axis presented small dimensions and morphological changes with a slight loss of atlantoaxial articular relationship. Spondylopathies were detected along the cervical spine. Other lamb of the Lacaune breed, weighing 4.2 kg, was presented shortly after birth with changes in the shape and posture of the neck, difficult locomotion and in sternal decubitus. The owner reported that the lamb came from a twin eutocic birth, with the other lamb being apparently normal. The animal was unable to ingest the colostrum, in which the sheep was milked and colostrum was offered through a bottle.[...](AU)


Asunto(s)
Animales , Vértebras Cervicales/anomalías , Vértebras Cervicales/embriología , Ovinos , Anomalías Congénitas/veterinaria , Tomografía Computarizada por Rayos X/veterinaria
11.
Coluna/Columna ; 15(4): 330-333, Oct.-Dec. 2016. graf
Artículo en Inglés | LILACS | ID: biblio-828622

RESUMEN

ABSTRACT Surgical treatment of craniocervical junction pathology has evolved considerably in recent years with the implementation of short fixation techniques rather than long occipito-cervical fixation (sub-axial). It is often difficult and sometimes misleading to determine the particular bone and vascular features (high riding vertebral artery, for instance) using only the conventional images in three orthogonal planes (axial, sagittal and coronal). The authors describe a rare clinical case of congenital malformation of the craniovertebral junction consisting of hypoplasia/agenesis of the odontoid process and bipartite atlas associated with atlantoaxial instability which was diagnosed late in life in a patient with a previous history of rheumatologic disease. The authors refer to the diagnostic process, including new imaging techniques, and three-dimensional multiplanar reconstruction. The authors also discuss the surgical technique and possible alternatives.


RESUMO O tratamento cirúrgico da patologia da charneira crânio-cervical tem evoluído consideravelmente nos últimos anos com a implementação de técnicas de fixação curta em detrimento de longas fixações occipito-cervicais (sub-axiais). Frequentemente é difícil e por vezes enganador determinar as variações ósseas e vasculares (artéria vertebral high-riding p.e.) apenas pelas imagens convencionais em três planos ortogonais (axial, sagital e coronal). Os autores descrevem um caso clínico raro de malformação congénita da charneira crânio-cervical constituída por hipoplasia/agenésia da odontoide e atlas bipartido, associado a instabilidade atlanto-axial e diagnosticado tardiamente em doente com antecedentes reumáticos prévios. Descreve-se o processo diagnóstico, incluindo novas técnicas de imagiologia e de reconstrução multiplanar tridimensional. Discute-se a técnica cirúrgica utilizada e possíveis alternativas.


RESUMEN El tratamiento quirúrgico de la patología de la región craneocervical ha evolucionado considerablemente en los últimos años con la aplicación de técnicas de fijación cortas en lugar de fijación occipito-cervical larga (sub-axial). A menudo es difícil y hasta engañoso determinar las características óseos y vasculares (arteria vertebral high-riding, por ejemplo) usando sólo imágenes convencionales en tres planos ortogonales (axial, sagital y coronal). Los autores describen un caso clínico poco frecuente de malformación congénita de la unión craneocervical que consiste en la hipoplasia/agenesia de la apófisis odontoides y atlas bipartito, asociado con la inestabilidad atlantoaxial, diagnosticado tardiamente en pacientes con enfermedades reumatológicas previas. Los autores relatan el proceso de diagnóstico, incluyendo nuevas técnicas de imagen y la reconstrucción multiplanar tridimensional. Los autores también discuten la técnica quirúrgica y las posibles alternativas.


Asunto(s)
Humanos , Anomalías Congénitas , Atlas Cervical , Vértebras Cervicales/anomalías , Vértebras Cervicales/cirugía , Hueso Occipital , Apófisis Odontoides
13.
Rev Med Inst Mex Seguro Soc ; 52(6): 692-5, 2014.
Artículo en Español | MEDLINE | ID: mdl-25354065

RESUMEN

BACKGROUND: Typical clinical features of the Coffin-Lowry syndrome include facies with hypertelorism, small nose, wide mouth, full and everted lips; short stature, mental retardation, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and scoliosis. Due to its scarce incidence, it is difficult making an early diagnosis. The aim of this report was to document the anatomical peculiarities identified during the surgical treatment of a patient with this syndrome. CLINICAL CASE: Male patient with Coffin-Lowry syndrome who evolved with narrow cervical canal plus myelomalacia at short age, making decompression from C3 to C6 and instrumentation from C2 to C7 necessary. During the surgery, in addition to calcification of the yellow ligament, adhesions on the dura mater from C4 to C4, dark purplish color in this area and hourglass-shaped thinning were found; the ends at C3 and C6 were normal. The purpose of the surgery was to stop the myopathy. Post-operatively, the patient had pulmonary complications; at the sixth day he passed away due to ventilatory complications and inadequate secretion control. CONCLUSIONS: The Coffin-Lowry syndrome is a rare diagnosis in our country; neurological involvement at the spinal level is characterized by kyphosis or scoliosis; for its diagnosis, an adequate medical history and a karyotype are necessary.


INTRODUCCIÓN: Las características clínicas típicas del síndrome de Coffin-Lowry son facies con hipertelorismo, nariz pequeña, boca amplia, labios amplios y evertidos; estatura corta, retardo mental, deformidad del pectus, disfunción de la válvula mitral, afectación de hipocampo y cerebelo, pérdida de la audición y trastornos de la columna, como cifosis o escoliosis. Debido a su escasa incidencia es difícil realizar el diagnóstico temprano. El objetivo de este informe fue documentar las peculiaridades anatómicas identificadas durante el tratamiento quirúrgico de un paciente con este síndrome. CASO CLÍNICO: varón con síndrome de Coffin-Lowry quien evolucionó con canal cervical estrecho más mielomalacia a corta edad, por lo que fue necesaria descompresión de C3 a C6 e instrumentación de C2 a C7. Durante la cirugía se encontró, además de la calcificación del ligamento amarillo, adherencias a la duramadre desde C4 a C5, color violáceo obscuro en esta área y adelgazamiento en forma de reloj de arena; los extremos en C3 y C6 eran normales. El objetivo de la cirugía fue detener la miopatía. En el posquirúrgico, el paciente presentó complicaciones pulmonares; al sexto día falleció por complicaciones ventilatorias y mal manejo de secreciones. CONCLUSIONES: el síndrome de Coffin-Lowry es un diagnóstico raro en nuestro país, la afección neurológica a nivel de la columna se caracteriza por cifosis o escoliosis, para su diagnóstico es necesario una adecuada historia clínica y un cariotipo.


Asunto(s)
Anomalías Múltiples/diagnóstico , Vértebras Cervicales/anomalías , Síndrome de Coffin-Lowry/diagnóstico , Canal Medular/anomalías , Compresión de la Médula Espinal/diagnóstico , Médula Espinal/patología , Anomalías Múltiples/cirugía , Adolescente , Vértebras Cervicales/cirugía , Síndrome de Coffin-Lowry/cirugía , Descompresión Quirúrgica , Resultado Fatal , Humanos , Masculino , Canal Medular/cirugía , Compresión de la Médula Espinal/cirugía
14.
Genet Couns ; 25(1): 29-33, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24783652

RESUMEN

We report a Mexican mestizo 2 months old male with Fryns syndrome and vertebral defects. The patient's phenotype included typical craniofacial dysmorphism, short neck, agenesis of the corpus callosum, congenital left diaphragmatic hernia, complex heart disease, C1 to C6 vertebral agenesis with increased interpedicular space, thoracic rotoscoliosis, broad medial ends of the clavicles, brachytelephalangy of hands and feet with fingers axially deviated, and nail hypoplasia. Renal and chromosomal evaluations were normal. Since this is the first description of cervical vertebrae agenesis and thoracic rotoscoliosis in Fryns syndrome, we propose that these clinical and radiological features should be incorporated to the Fryns syndrome phenotype and specifically looked for in other children.


Asunto(s)
Anomalías Múltiples , Vértebras Cervicales/anomalías , Disostosis/congénito , Cardiopatías Congénitas , Hernias Diafragmáticas Congénitas , Escoliosis/congénito , Vértebras Torácicas/anomalías , Anomalías Múltiples/diagnóstico por imagen , Vértebras Cervicales/diagnóstico por imagen , Disostosis/diagnóstico por imagen , Facies , Resultado Fatal , Cardiopatías Congénitas/diagnóstico por imagen , Hernia Diafragmática/diagnóstico por imagen , Humanos , Lactante , Deformidades Congénitas de las Extremidades/diagnóstico por imagen , Masculino , México , Fenotipo , Radiografía , Escoliosis/diagnóstico por imagen , Vértebras Torácicas/diagnóstico por imagen
15.
Int. j. morphol ; 32(1): 54-60, Mar. 2014. ilus, tab
Artículo en Inglés | LILACS | ID: lil-708723

RESUMEN

The Ponticulus posticus is an anomalous ossification of unknown origin that arches backward from the superior articular process to the posterior arch of the Atlas vertebra, it can be complete or partial and houses vascular and nervous elements; it is diagnosed by lateral cervical radiography, cephalometric radiography or CT scans. The purpose for the present study was to determine the frequency of partial and complete Ponticulus posticus in lateral cephalometric radiography of Peruvian patients and identify any possible genre or age group associations. The study consisted in reviewing 1056 lateral cephalometric radiography of patients between 3­56 years old in search of partial or complete Ponticulus posticus. The mean age of subjects studied was 14.05±7.43 years old. The Ponticulus posticus frequency was 19.79%, the partial Ponticulus posticus frequency was 11.08% and the complete Ponticulus posticus frequency was 8.71%; Cramer´s V and ETA statistics found not significant association between the PP and the genre or the age groups (p>0.05). The Ponticulus posticus is not an infrequent radiographic finding, our results are similar to those reported in the Americas and similar to different for other ethnic groups, we confirm that the Ponticulus posticus is not associated with genre or age and we reviewed the importance of the Ponticulus posticus in the prognosis of the Atlas-Axis surgical stabilization.


El ponticulus posticus es una osificación anómala de origen desconocido en forma de arco que va desde el proceso articular hacia el arco posterior del atlas; puede ser completo o parcial y aloja elementos vasculares y nerviosos; su diagnóstico se realiza mediante la radiografía lateral cervical, radiografía cefalométrica o tomografía computarizada. El propósito del estudio fue determinar la frecuencia del ponticulus posticus parcial y completo en radiografías cefalométricas de pacientes peruanos y determinar las diferencias de acuerdo al sexo y edad. Se revisaron 1056 radiografías cefalométricas de pacientes entre los 3 a 56 años de edad en busca de ponticulus posticus parcial o completo. La edad promedio fue de 14,05±7,43 años. La frecuencia de ponticulus posticus en general fue 19,79%, con el tipo parcial en un 11,08% y de tipo completo en un 8,71%. Se observó una mayor frecuencia en los hombres (10,22%) que en mujeres (9,56%). No se encontraron diferencias significativas entre la presencia de ponticulus posticus parcial o completo con respecto al sexo y a la edad (p>0,05). El ponticulus posticus no es un hallazgo infrecuente, nuestros resultados fueron similares a los reportados para pacientes americanos y similares a distintos para otros grupos étnicos, se confirmo mediante estadística que el ponticulus posticus no se encuentra asociado a la edad y se discute la importancia de la presencia del ponticulus posticus en el pronóstico de la estabilización del complejo vertebral atlas-axis.


Asunto(s)
Humanos , Masculino , Adolescente , Adulto , Vértebras Cervicales , Vértebras Cervicales/anomalías , Perú , Atlas Cervical , Atlas Cervical/anomalías , Factores Sexuales , Cefalometría , Cefalometría/métodos , Factores de Edad , Osificación Heterotópica
16.
Rev cienc méd pinar río ; 16(3)jun. 2012. ilus
Artículo en Español | CUMED | ID: cum-50400

RESUMEN

El meningocele cervical es una forma rara de disrafismo espinal. La placa neural pasa por diversas transformaciones hasta convertirse en el tubo neural y cualquier alteración durante su cierre conllevará la aparición de la espina bífida. Durante el embarazo las necesidades maternas de folatos aumentan debido a la síntesis de ácidos nucleicos y proteínas durante la embriogénesis, velocidad de crecimiento y desarrollo fetal de los primeros meses de la gestación. Se presenta el caso de paciente masculino de 12 meses de edad, nacido de un parto eutócico ocurrido el día 5 de diciembre del 2008 en el Hospital de Santa Bárbara, con una tumoración en la región posterior del cuello al nacer; es remitido al servicio de Neurocirugía del Hospital Mario Catarino Rivas. Se observó como dato positivo en la región cervical un aumento de volumen redondeado, adherido al plano profundo, renitente, movible y no doloroso cubierto de piel en su totalidad. Se le diagnostica un meningocele cervical y confirma mediante resonancia magnética nuclear cervicodorsal. Se realizó la resección del mismo en el mes de febrero del año 2010 y ha sido evaluado periódicamente en las consultas de neurocirugía y en su área de salud con evolución satisfactoria(AU)


Cervical meningocele is a rare form of spinal dysrhahism. Neural plate undergoes various transformations to become into the neural tube, and any modifications occurring during the closure, will lead to the onset of spina bifida. During pregnancy the maternal needs of folates increase due to the synthesis of nucleic acids and proteins, all through the embryogenesis, velocity of growth and fetal development in the first months of pregnancy. A 12-months age, male patient, born from a normal delivery, December 5, 2008 at Santa Barbara Hospital, presented a tumor at birth in the posterior region of the neck; the patient was referred to the Neurosurgery Service at Mario Catarino Rivas Hospital. As positive information, a rounded volume increase in the cervical region was observed, it was adhere at profound plane, renitent, movable, painless, totally covered by skin. Cervical meningocele was diagnosed, confirming the diagnosis with a cervico-dorsal nuclear magnetic resonance (NMR). February 2010 the tumor was removed and the patient is periodically assessed at Neurosurgery Service and in the health area, having a satisfactory evolution(AU)


Asunto(s)
Humanos , Lactante , Meningocele/cirugía , Meningocele/diagnóstico , Vértebras Cervicales/anomalías , Disrafia Espinal/diagnóstico , Médula Espinal/anomalías
17.
Ginecol Obstet Mex ; 79(8): 497-500, 2011 Aug.
Artículo en Español | MEDLINE | ID: mdl-21966848

RESUMEN

The meningocele is the least common form of spina bifida cystica and represents less than 10% of cases of this disorder. A case of a female patient aged 26 with a history of two pregnancies and two previous cesarean sections, present pregnancy unplanned, uncontrolled during the first trimester prenatal and without supplementation with folic acid. Family history of consanguinity with her husband (second cousins) and psychomotor reassessed in four maternal cousins. The first follow-up visit the patient was at 34 weeks of pregnancy. The ultrasonographic findings were: cervical meningocele posterior filiform connection between the first and second cervical vertebrae, lateral ventriculomegaly and third and fourth ventricles and hydrocephalus secondary. Cesarean section was performed at 37 weeks gestation and was a newborn male 3.000 g, 52 cm, head circumference of 36 cm, Apgar 8/9, Capurro 37 weeks of gestation. In the posterior cervical region tumor was located a soft 5 x 5 cm with intact skin, adhered to deep planes. Movement of all four extremities without neurological involvement. He referred to the department of neurosurgery for shunt placement and subsequently performed surgical excision of the meningocele.


Asunto(s)
Vértebras Cervicales/anomalías , Meningocele/patología , Adulto , Derivaciones del Líquido Cefalorraquídeo , Cesárea Repetida , Consanguinidad , Femenino , Humanos , Hidrocefalia/congénito , Hidrocefalia/etiología , Hidrocefalia/cirugía , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Meningocele/diagnóstico por imagen , Meningocele/embriología , Meningocele/cirugía , Embarazo , Ultrasonografía Prenatal
18.
Clinics (Sao Paulo) ; 65(10): 953-9, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-21120293

RESUMEN

OBJECTIVE: The aim of this study was to perform a detailed tomographic analysis of the skull base, craniocervical junction, and the entire spine in seven patients with spondylocostal dysostosis syndrome. METHOD: Detailed scanning images have been organized in accordance with the most prominent clinical pathology. The reasons behind plagiocephaly, torticollis, short immobile neck, scoliosis and rigid back have been detected. Radiographic documentation was insufficient modality. RESULTS: Detailed computed tomography scans provided excellent delineation of the osseous abnormality pattern in our patients. CONCLUSION: This article throws light on the most serious osseous manifestations of spondylocostal dysostosissyndrome.


Asunto(s)
Vértebras Cervicales/diagnóstico por imagen , Disostosis/diagnóstico por imagen , Imagenología Tridimensional/normas , Base del Cráneo/patología , Columna Vertebral/diagnóstico por imagen , Tomografía Computarizada por Rayos X/normas , Adolescente , Vértebras Cervicales/anomalías , Niño , Preescolar , Disostosis/congénito , Femenino , Humanos , Masculino , Base del Cráneo/anomalías , Columna Vertebral/anomalías , Síndrome
19.
Int. j. morphol ; 28(4): 1019-1024, dic. 2010. ilus, graf, tab
Artículo en Inglés | LILACS | ID: lil-582883

RESUMEN

Atlas bridges, the bony outgrowths over the third segment of the vertebral artery are associated with compression of the artery and nerves. There are limited studies comparing morphometry of the complete atlas bridges and that of the ipsilateral transverse foramen. Bilateral and gender differences in the morphometry of the complete bridges remain relatively unexplored. One hundred and two atlas vertebrae (49 male and 53 female) obtained from the Osteology Department of the National Museums of Kenya were used for this study. The presence of complete posterior atlas bridge (retroarticular canal) and lateral bridge (supratransverse foramen) was noted. Measurements were taken for the diameters of foramina, and the ipsilateral transverse foramina and their areas calculated. Complete posterior bridges occurred in 14.6 percent and 13.6 percent on the right and left sides respectively. The lateral bridge was found in 3.9 percent of the cases on the right side only. The complete posterior bridges had a cross-sectional area of 23.44mm2 on the right and 24.98mm2 on the left side. The lateral bridges had a mean cross-sectional area of 27.30mm2. The right and left transverse foramina had mean crosssectional area of 36.30mm2 and 37.20mm2 respectively, which was significantly larger than that of the ipsilateral complete and posterior bridges. The smaller dimensions of the complete atlas bridges compared to the ipsilateral transverse foramen suggest that they may predispose to vertebrobasilar insufficiency, Barre-Lieou and cervicogenic syndromes due to compression of the contents in the foramina.


Puentes del atlas, sobrecrecimientos óseos en el tercer segmento de la arteria vertebral se asocian con la compresión de la arteria y los nervios. Hay pocos estudios que comparan la morfometría de los puentes completos del atlas y el foramen transversal ipsilateral. Diferencias bilaterales y de género en la morfometría de los puentes completos permanecen relativamente inexplorados. Ciento dos vértebras atlas (49 hombres y 53 mujeres) obtenidos del Departamento de Osteología de los Museos Nacionales de Kenya se utilizaron para este estudio. Fueron identificados la presencia de puentes completos posteriores del atlas (canal retroarticular) y puentes laterales (foramen supratransverso). Se realizaron las mediciones de los diámetros del foramen y los forámenes transversos ipsilaterales, y se calcularon sus áreas. Puentes completos posteriores se observaron en el 14,6 por ciento y 13,6 por ciento de los lados derecho e izquierdo, respectivamente. El puente lateral se encontró en el 3,9 por ciento de los casos en el lado derecho solamente. Los puentes completos posteriores tuvieron un área transversal de 23,44mm2 en el lado derecho y 24,98mm2 en el lado izquierdo. Los puentes laterales tuvieron un área media de sección transversal de 27,30mm2. En los lados derecho e izquierdo se encontrron forámenes transversos con un área promedio de sección transversal de 36,30mm2 y 37,20mm2 respectivamente, lo que fue significativamente mayor que el de los puentes completos ipsilaterales y posteriores. Las dimensiones más pequeñas de los puentes atlas completos en comparación con los forámenes transversos ipsilaterales sugieren que pueden predisponer a la insuficiencia vertebrobasilar, síndromes de Barre-Lieou y cervical debido a la compresión de los contenidos en los forámenes.


Asunto(s)
Humanos , Masculino , Femenino , Atlas , Vértebras Cervicales/anatomía & histología , Vértebras Cervicales/anomalías , Kenia , Síndromes de Compresión Nerviosa
20.
Pesqui. vet. bras ; 30(6): 484-490, 2010. ilus, graf, mapas, tab
Artículo en Portugués | VETINDEX | ID: vti-14535

RESUMEN

Carcaças de botos-cinza Sotalia guianensis (van Bénéden, 1864) foram recuperadas entre 20 de agosto de 2001 e 13 de fevereiro de 2006, na costa centro-norte fluminense. A maior parte delas (85 por cento) entre Barra de São João (22º35'S 41º59'W) e Quissamã (22º06'S 41º28'W). Foram estudadas as colunas vertebrais dos 20 exemplares que apresentavam mais de 60 por cento das vértebras presentes. A coleção é formada por 75 por cento de animais imaturos, e todos os esqueletos mostram alterações tafonômicas mínimas. Duas categorias de anomalias congênitas foram diagnosticadas, ambas relacionadas ao desenvolvimento do mesoderma paraxial. A sétima vértebra cervical (C7) foi a única afetada, as costelas cervicais e o não fechamento do arco neural atingiram 15 (75 por cento) dos indivíduos analisados, dos quais três (15 por cento) apresentam ambas as anomalias. Nove (45 por cento) indivíduos apresentaram costelas cervicais uni ou bilateral, e nove (45 por cento) indivíduos apresentaram não fechamento do arco neural; em todos os casos as vértebras contíguas eram normais. A ocorrência de anomalias nesta série do Rio de Janeiro é maior do que as referidas na literatura brasileira para outras séries de Sotalia do Amazonas, Ceará e Santa Catarina. A série de Sotalia descrita vem de uma região do litoral muito limitada e provavelmente representa uma população local. As costelas cervicais são geneticamente determinadas e podem estar concentradas por uma condição de grande proximidade biológica entre os animais; o não fechamento do arco pode ter também um componente ambiental, a ser investigado futuramente.(AU)


Carcasses of Guiana dolphins, Sotalia guianensis (van Bénéden, 1864) were recovered from August 20, 2001 to February 13, 2006 along the north-central coast of Rio de Janeiro state. Most of the animals (85 percent) were found between Barra de São João (22º35'S 41º59'W) and Quissamã (22º06'S 41º28'W). We studied the vertebral columns of all the 20 specimens that had more than 60 percent of the vertebrae preserved. The series has 75 percent of immature animals and all skeletons displayed a minimum of taphonomic changes. Two categories of congenital anomalies were diagnosed, both related to the development of the paraxial mesoderm. The seventh cervical vertebra (C7) was the only affected; the cervical ribs and the cleft neural arches were present in 15 (75 percent) of the individuals, three (15 percent) of which had both anomalies. Nine (45 percent) individuals had unilateral or bilateral cervical ribs, and nine (45 percent) individuals had cleft neural arches; the contiguous vertebrae were normal in every case. The frequency of these anomalies was higher in that Rio de Janeiro series than in other Sotalia series previously reported in the Brazilian literature for Amazonas, Ceará and Santa Catarina States. The present Sotalia series here described comes from a very limited coastal region probably representing a local population. The cervical ribs are genetically defined and may be concentrated because of a condition of close biological proximity among the animals; the cleft arch could also be determined by environmental factors, to be investigated in the future.(AU)


Asunto(s)
Animales , Osteogénesis/genética , Delfines/anomalías , Morfogénesis/genética , Mesodermo/anomalías , Vértebras Cervicales/anomalías
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