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Background: Orbital hypertelorism is a rare congenital condition caused by craniofacial malformations. It consists of complete orbital lateralization, characterized by an increase in distance (above the 95th percentile) of the inner canthal (ICD), outer canthal, and interpupillary distances. It can be approached surgically, and the main techniques are box osteotomy and facial bipartition. The surgical procedure is usually performed before the age of 8. We describe here two patients who underwent late surgical correction using the box osteotomy technique. Case Description: Patient 1: A 13-year-old female presenting isolated hypertelorism with 5 cm ICD and left eye amblyopia. Patient 2: A 15-year-old female with orbital hypertelorism, 4.6 cm ICD, and nasal deformity. Both patients underwent orbital translocation surgery and had no neurological disorders. Conclusion: The article reports two cases of isolated hypertelorism treated late with the box osteotomy technique. Both surgeries were successful, with no postoperative complications. It appears that it is possible to obtain good surgical results even in patients who have not been able to undergo surgery previously.
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ABSTRACT A 12-year-old boy with Donnai-Barrow syndrome diagnosed intra-uterus presented esotropia, high myopia, nystagmus, and optic disk staphyloma in an ophthalmologic examination. The patient had associated Fanconi syndrome and sensorineural hearing loss as well as facial manifestations as hypertelorism, downward slanting of palpebral fissures and low ear implantation. Magnetic resonance imaging revealed agenesis of the corpus callosum. To our knowledge, this is the first reported case associated with esotropia, nystagmus, and optic disk staphyloma.
RESUMO Paciente do sexo masculino, 12 anos, com diagnóstico intrauterino de síndrome de Donnai-Barrow, apresentava ao exame oftalmológico esotropia, alta miopia, nistagmo e estafiloma de disco óptico. Associado ao quadro, apresentava síndrome de Falconi e perda auditiva neurossensorial, além de alterações faciais, como hipertelorismo, inclinação inferior das fissuras palpebrais e implantação baixa das orelhas. Ressonância magnética revelou agenesia de corpo caloso. Ao nosso conhecimento, este é o primeiro caso relatado associando esotropia, nistagmo e estafiloma de disco óptico.
Asunto(s)
Humanos , Masculino , Niño , Anomalías Múltiples , Enfermedades del Nervio Óptico/fisiopatología , Esotropía/fisiopatología , Nistagmo Patológico/fisiopatología , Miopía/fisiopatología , Defectos Congénitos del Transporte Tubular Renal , Síndrome , Acidosis Tubular Renal , Desprendimiento de Retina , Criptorquidismo , Síndrome de Fanconi/fisiopatología , Agenesia del Cuerpo Calloso/fisiopatología , Hernias Diafragmáticas Congénitas , Pérdida Auditiva Sensorineural , Hipertelorismo/fisiopatologíaRESUMEN
Craniofrontonasal Syndrome is a very rare dominant X-linked genetic disorder characterized by symptoms such as hypertelorism, craniosynostosis, eye alterations, bifid nose tip, and longitudinal ridging and splitting of nails. Heterozygous females are usually the patients severely affected. To date, clinical or genetic data have not been published for these patients in Colombia. Here we report a female proband with coronal craniosynostosis, hypertelorism, strabismus, rotational nystagmus, high-arched palate, dental crowding, scoliosis, severe pectus excavatum, unilateral breast hypoplasia, and brachydactyly; diagnosed with Craniofrontonasal Syndrome with the novel heterozygous variant c.374A>C (p.Glu125Ala) in the EFNB1 gene. So far, she has been treated with physical therapy and surgical correction of the bifid nose and an umbilical hernia. To the best of our knowledge, this is the first report of a patient with this rare genetic disorder in Colombia, expanding its mutational spectrum and highlighting the importance of genetic evaluation of patients with craniosynostosis and facial dysmorphism.
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RESUMEN Introducción: El Piomucocele es la infección de un mucocele pre existente. Presentamos un varón de 22 años con disminución de agudeza visual, hipertelorismo y exolftamos. Presentó proptosis inferolateral y agudeza visual 20/80 en el lado izquierdo. Sin antecedente de traumatismo, infecciones, pólipos o cirugías. TAC con imágenes sugestivas de mucocele bilateral con efecto compresivo orbital anterior en el lado derecho y posterior en el lado izquierdo. El efecto compresivo del piomucocele etmoidal y esfenoidal en el lado izquierdo produjo compromiso del canal óptico con disminución de la agudeza visual ipsilateral. Se realizó cirugía endoscópica nasosinusal con marsupialización y descompresión, encontrándose dos piomucoceles en dirección antero posterior bien delimitados en lado derecho y un piomucocele izquierdo. La evolución fue favorable. Ésta inusual presentación obliga a considerar el compromiso ocular insospechado, principalmente en piomucoceles que comprometan senos paranasales posteriores.
ABSTRACT Background: The Piomucocele is the infection of a pre-existing mucocele. We present a 22-year-old man with decreased visual acuity, hypertelorism, and exophthalmos. He presented inferolateral proptosis and visual acuity 20/80 on the left side. No history of trauma, infection, polyps, or surgery. CT scan with images suggestive of bilateral mucocele with anterior orbital compression effect on the right side and posterior on the left side. The compressive effect of the ethmoidal and sphenoid pyomukocele on the left side produced compromise of the optic canal with decreased ipsilateral visual acuity. Endoscopic sinonasal surgery was performed with marsupialization and decompression, finding two well-defined anteroposterior pyomukoceles on the right side and one left pyomukocele. The evolution was favorable. This unusual presentation forces us to consider unsuspected ocular involvement, mainly in pyomukoceles that involve posterior paranasal sinuses.
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BACKGROUND: Craniofrontonasal dysplasia (CFND) is a rare congenital craniofacial syndrome characterized by single suture synostosis, hypertelorism, other clinical facial features, and abnormalities in the upper extremities. There are only a few studies in the applicable literature that address hypertelorism management for CFND patients and outcomes and complication rates. METHODS: A retrospective study was performed on consecutive late presenting CFND patients referred to our hospital with substantially completed craniofacial skeleton growth, who underwent hypertelorism correction between 2007 and 2019 following intracranial pressure screening, and who received at least 1 year of follow-up care. None of the patients in this study underwent prior craniofacial surgery. Only those patients with a confirmed mutation of the EFNB1 gene were included in this study. All patients in this study underwent hypertelorism correction by facial bipartition or box osteotomy. RESULTS: A total of ten late presenting CFND patients (all female) were treated at our hospital during the study period. None of the patients presented signs of elevated intracranial pressure. The average patient age at hypertelorism correction was 13.4 ± 7.68 years of age. Major complications, defined as complications requiring a return to the operating room, were limited to infection of the frontal bone, which required partial bone removal, and cerebrospinal fluid (CSF) leak, which was completely resolved by insertion of a lumbar shunt for a 7-day period. CONCLUSION: The absence of elevated intracranial pressure enables hypertelorism correction in late presenting CFND patients via facial bipartition or box osteotomy without the need for additional operations that provide for cranial expansion.
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Anomalías Craneofaciales , Hipertelorismo , Anomalías Craneofaciales/complicaciones , Anomalías Craneofaciales/cirugía , Femenino , Hueso Frontal , Humanos , Hipertelorismo/cirugía , Estudios RetrospectivosRESUMEN
PURPOSE: To identify and determine variations on eye distance in patients with bilateral nasal polyposis (BNP) compared to a healthy control group. METHODS: This is a case-control study that included 20 BNP patients and 40 healthy controls. We included all patients with BNP confirmed by pathology and a computed tomography scan. A healthy control group was admitted, filtered by the exclusion criteria of nasal polyposis, craniofacial malformations, and encephalocele. Paranasal sinus CT scans were performed in all participants, and two measures were evaluated, the interoptic (soft tissue) and the interzygomatic (bone structure) distances. RESULTS: A total of 20 BNP subjects, 13 (65%) male and 7 (35%) female, with a mean age of 38.8 years, and 40 healthy controls, 16 (40%) male and 24 (60%) female with a mean age of 43.2 years, were included. The mean interoptic distance was 69.7 mm (71.9 mm men, 66.4 mm women) and interzygomatic distance was 103.1 mm (104.5 mm men, 100.6 mm women). A significant increase of the interoptic (p < 0.001) and interzygomatic (p < 0.002) measurements was found in patients with polyposis compared to the controls. In the receptor operative curve analysis, the interoptic distance had an area under a curve of 96% and the threshold that maximizes the sensitivity and specificity was 59.85 mm (sensitivity 90%, specificity 95%, PPV 90%, NPV 95%). CONCLUSIONS: An increase in ocular and orbital distances was identified in patients with BNP. Polyposis may be identified by measuring eye separation. The established cut point distance identifies patients that may benefit from follow-up. Further research in this study line is suggested.
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Hipertelorismo/diagnóstico , Pólipos Nasales/diagnóstico , Cigoma/diagnóstico por imagen , Adulto , Pesos y Medidas Corporales/métodos , Pesos y Medidas Corporales/estadística & datos numéricos , Estudios de Casos y Controles , Correlación de Datos , Femenino , Humanos , Masculino , Sensibilidad y Especificidad , Tomografía Computarizada por Rayos X/métodosRESUMEN
ABSTRACT Hypertrophic cardiomyopathy is known as Leopard syndrome, which is a mnemonic rule for multiple lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A), retardation of growth (R), and deafness (D). We report the case of a 12-year-old patient with some of the abovementioned characteristics: hypertelorism, macroglossia, lentigines, hypospadias, cryptorchidism, subaortic stenosis, growth retardation, and hearing impairment. Due to this set of symptoms, we diagnosed Leopard syndrome.
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Humanos , Masculino , Niño , Síndrome LEOPARD/diagnóstico , FenotipoRESUMEN
Manitoba-oculo-tricho-anal (MOTA) syndrome is an uncommon condition arising from biallelic mutations of FREM1 gene and clinically characterized by a variable spectrum of eyelid malformations, aberrant hairline, bifid or broad nasal tip, and gastrointestinal anomalies. In this report, we describe a patient with a phenotype compatible with MOTA syndrome (aberrant anterior hair line, hypertelorism, unilateral anophthalmia, and bifid and broad nasal tip) in whom two novel FREM1 mutations (c.305 A > G, p.Asp102Gly; and c.2626delG, p.Val876Tyrfs*16) were identified in the compound heterozygous state, thus broadening the mutational spectrum of the disease. We performed a literature review of the clinical and genetic features of individuals carrying FREM1 mutations.
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Anomalías Múltiples/genética , Canal Anal/anomalías , Coloboma/genética , Hipertelorismo/genética , Receptores de Interleucina/genética , Preescolar , Párpados/anomalías , Femenino , Humanos , FenotipoRESUMEN
The Gorlin-Goltz syndrome (GGS) is a hereditary, autosomal dominant condition, with high penetrance and variable expressivity, resulting from mutations in the genes PTCH1, PTCH2, or SUFU. The diagnosis is based on the presence of 2 major criteria or a major criterion associated with 2 minor criteria, including multiple basal cell carcinomas, keratocystic odontogenic tumor (KOT), and bifid rib. Other endocrine, neurological, ophthalmologic, genital, respiratory, and cardiovascular alterations are found in the literature, but with variable manifestations. This study reports the case of a patient diagnosed with GGS associated with diastolic congestive heart failure and type 2 diabetes mellitus, who underwent multiple treatments for components of the syndrome. More recently, the patient underwent decompression followed by cystic enucleation of two KOTs in the jaw, oral rehabilitation with removable prosthodontics, cardiological evaluation, and attempted clinical control of endocrine and cardiac problems.
A síndrome de Gorlin-Goltz (SGG) é uma condição hereditária, autossômica dominante, com alta penetrância e expressividade variável, decorrente de mutações nos genes PTCH1, PTCH2 ou SUFU. O diagnóstico é baseado na presença de dois critérios maiores ou um critério maior associado a dois critérios menores, dentre eles múltiplos carcinomas basocelulares, tumor odontogênico ceratocístico (TOC) e costela bífida. Outras alterações endócrinas, neurológicas, oftalmológicas, genitais, respiratórias e cardiovasculares são encontradas na literatura, porém com manifestações variáveis. O objetivo deste trabalho é relatar um caso clínico de uma paciente sistematicamente diagnosticada com SGG associada à insuficiência cardíaca congestiva diastólica e diabetes mellitus 2 submetida a tratamentos seriados das respectivas manifestações sindrômicas. Mais recentemente, à descompressão cística seguida da enucleação de dois TOC em mandíbula, reabilitação oral com prótese total removível, avaliação cardiológica e tentativa de controle clínico das alterações endócrinas e cardíacas.
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Humanos , Femenino , Persona de Mediana Edad , Historia del Siglo XXI , Patología Bucal , Cardiomiopatía Hipertrófica , Síndrome del Nevo Basocelular , Megalencefalia , Hipertelorismo , Rehabilitación Bucal , Patología Bucal/métodos , Cardiomiopatía Hipertrófica/complicaciones , Cardiomiopatía Hipertrófica/terapia , Síndrome del Nevo Basocelular/cirugía , Síndrome del Nevo Basocelular/complicaciones , Síndrome del Nevo Basocelular/terapia , Megalencefalia/cirugía , Megalencefalia/patología , Hipertelorismo/cirugía , Hipertelorismo/complicaciones , Hipertelorismo/patología , Rehabilitación Bucal/métodosRESUMEN
A síndrome G/BBB é uma condição rara, caracterizada por hipertelorismo, fissura de lábio e palato e hipospádia. Não foram encontrados trabalhos sobre a audição em indivíduos com esta síndrome. OBJETIVO: Investigar a função auditiva em pacientes com síndrome G/BBB quanto à ocorrência ou não de perda auditiva e a condução nervosa auditiva periférica e central. MATERIAL E MÉTODO: Catorze pacientes de 7 a 34 anos, do gênero masculino, com a síndrome G/BBB, foram avaliados por meio de otoscopia, audiometria, timpanometria e potenciais evocados auditivos de tronco encefálico (PEATE). Forma de Estudo: Estudo de série clínico prospectivo. RESULTADOS: Limiares audiométricos normais em 12 (66,7 por cento) pacientes da amostra e alterados em dois (33,3 por cento), sendo um com perda condutiva e um neurossensorial. Quanto ao PEATE, foram encontrados: latências absolutas da onda I normais em todos os pacientes, aumento das latências absolutas da onda III e V em dois e seis pacientes respectivamente; latências interpicos I-III, III-V e I-V aumentadas em quatro, três e oito pacientes, respectivamente. CONCLUSÃO: Perdas auditivas periféricas podem ocorrer na síndrome G/BBB. Há evidências de comprometimento das vias auditivas centrais em nível do tronco encefálico. Estudos com exames de imagem são necessários para maior clareza dos achados clínicos.
The G/BBB syndrome is a rare condition characterized by hypertelorism, cleft lip and palate, and hypospadias. No studies were found on the hearing of individuals with this syndrome. AIM: To investigate the auditory function in patients with G/BBB syndrome, such as the occurrence of hearing loss, and central and peripheral auditory nerve conduction. METHODS: Fourteen male patients aged 7-34 years with the G/BBB syndrome were assessed by otoscopy, audiometry, tympanometry and evoked auditory brainstem response (ABR). Model: A retrospective clinical series study. RESULTS: Audiometric thresholds were normal in 12 (66.7 percent) of the sample and altered in two (33.3 percent), one with conductive and one with sensorineural loss. ABR resuts were: all patients had normal absolute wave I latencies; absolute wave III and V latencies were increased in two and six patients, respectively; interpeak latencies I-III, IV and V interpeak latencies were increased in four, three and eight patients respectively. CONCLUSION: Hearing loss can occur in the G/BBB syndrome. There is evidence of central auditory pathway involvement in the brainstem. Imaging studies are needed to clarify the clinical findings.
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Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Adulto Joven , Pérdida Auditiva Conductiva/etiología , Pérdida Auditiva Sensorineural/etiología , Hipertelorismo/complicaciones , Hipospadias/complicaciones , Audiometría , Esófago/anomalías , Esófago/fisiopatología , Potenciales Evocados Auditivos del Tronco Encefálico/fisiología , Pérdida Auditiva Conductiva/diagnóstico , Pérdida Auditiva Conductiva/fisiopatología , Pérdida Auditiva Sensorineural/diagnóstico , Pérdida Auditiva Sensorineural/fisiopatología , Hipertelorismo/fisiopatología , Hipospadias/fisiopatología , Otoscopía , Estudios ProspectivosRESUMEN
Frontonasal dysplasia (FND) is a rare malformative complex affecting the frontal portion of the face, the eyes and the nose; it may occur singly or associated with other clinical signs. No systematic studies describing hearing in this condition were found. AIM: To evaluate hearing sensitivity and sound stimulus conduction from cochlea to brainstem in patients with clinical signs of FND. METHODS: 21 patients with isolated or syndromic FND were submitted to a clinical (otological/vestibular antecedents and otoscopy) and instrumental (pure tone and speech audiometry, tympanometry and brainstem auditory evoked response) hearing evaluation. DESIGN: A clinical, cross-sectional observational prospective study. RESULTS: Hearing thresholds were normal in 15 (70 percent) patients, abnormal in 5 (25 percent), mostly with conductive hearing loss; one patient did not cooperate with testing. The tympanometric curve was type A in 30 (72 percent) ears, type C in 5 (12 percent), type As in 4 (9 percent) and type B in 3 (7 percent). The auditory brainstem response (ABR) showed no abnormalities. CONCLUSION: Patients with FND showed no abnormalities in the auditory system from cochlea to brainstem in this study. Mild conductive hearing loss found in some is probably related to cleft palate. Further evaluation of hearing pathways at higher levels is recommended.
A displasia frontonasal (DFN) representa um complexo malformativo que afeta os olhos, o nariz e a região frontal da face. Estudos específicos com o objetivo de estudar a audição na DFN não foram encontrados na literatura. OBJETIVO: Avaliar o sistema auditivo em indivíduos com DFN quanto à acuidade e condução do estímulo sonoro até o tronco encefálico. MATERIAL E MÉTODO: 21 pacientes na faixa etária de 7 a 42 anos, sendo 14 do sexo feminino e 7 do sexo masculino, com DFN isolada ou sindrômica, foram submetidos à anamnese, meatoscopia, imitanciometria, audiometria tonal liminar e potenciais evocados auditivos de tronco encefálico (PEATE). FORMA DE ESTUDO: Estudo de série clínico prospectivo. RESULTADOS: Limiares audiométricos normais em 15 (70 por cento) indivíduos e alterados em 5 (25 por cento), sendo perda auditiva condutiva na maior parte. Na timpanometria, 30 orelhas (72 por cento) apresentaram curva tipo A, 5 (12 por cento) tipo C, 4 (9 por cento) tipo Ar e 3 (7 por cento) tipo B. Os valores das latências absolutas e interpicos do PEATE foram normais. CONCLUSÕES: Não foram encontradas alterações na via auditiva até o tronco encefálico. As alterações condutivas são provavelmente relacionadas às patologias de orelha média decorrentes da fissura de palato. Sugerimos a avaliação de níveis mais altos dentro do sistema auditivo.
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Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Adulto Joven , Umbral Auditivo/fisiología , Anomalías Congénitas/fisiopatología , Potenciales Evocados Auditivos del Tronco Encefálico/fisiología , Pérdida Auditiva/fisiopatología , Estimulación Acústica , Audiometría de Tonos Puros , Cara/anomalías , Cara/fisiopatología , Pérdida Auditiva/diagnóstico , Pérdida Auditiva/etiología , Estudios ProspectivosRESUMEN
Objective: to report a case of Wolf-Hirschhorn Syndrome or partial deletion of the short arm of one chromosome 4 and present a brief literature review. Case Report: the authors report a case of a seven years-old child presenting the main findings of the syndrome: hypertelorism, big and large nose, prominent glabella, high arched eyebrows, antimongoloid palpebral fissures, bilateral low implantation of auricles, and microcephaly. Echodopplercardiographic study evidenced interatrial communication type ostium secundum without hemodynamic repercussion. Radiological examination showed clubfeet. The patient presents many cognitive deficits, mainly in functions as interaction and learning. Evident motor dysfunctions compromising gait and also muscle atrophy. The child also presented convulsive crises in the first year of life that are currently controlled by the use of anticonvulsants. Final considerations: the incidence of the Wolf-Hirschhorn Syndrome is rare, with only 100 cases reported until1981. The prognosis is relative, with one third of the patients dying with in the first year, while other children are alive with more than twelve years of age. This case was diagnosed based on clinical, radiological, echodopplercardiographical criteria and confirmed by the karyotype's result 46,XX,del(4)(p15?1).
Objetivo: descrever um caso de síndrome de Wolf-Hirschhorn ou deleção parcial terminal do braço curto de um dos cromossomos 4 e apresentar uma breve revisão da literatura. Relato de Caso: criança de sete anos que apresenta os principais aspectos da síndrome: hipertelorismo, nariz grande e adunco, glabela proeminente, fissuras palpebrais antimongolóides, implantação baixa dos pavilhões auriculares, micrognatia e microcefalia. Radiografias do esqueleto revelaram má formação óssea, causando pés eqüinovaros. A ecodopplercardiografia evidenciou CIA sem repercussão hemodinâmica. A paciente apresenta inúmeros déficits cognitivos, fundamentalmente nas funções de interação e aprendizado, além dos distúrbios motores evidentes, com comprometimento da marcha e atrofia muscular; crises convulsivas no primeiro ano de vida, mas que estão atualmente controladas pelo uso de anticonvulsivante. Considerações Finais: a incidência da Síndrome de Wolh-Hirschhorn é rara, com 100 casos publicados até 1981. O prognóstico é relativo, com 1/3 dos pacientes morrendo no decorrer do primeiro ano, enquanto outras crianças estão vivas com mais de 12 anos. O caso apresentado foi diagnosticado com base em critérios clínicos, radiológicos, ecodopplercardiogáficos e confirmado pelo resultado do cariótipo: 46,XX,del(4)(p15?1).