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Objetivo: Identificar y clasificar las diferentes anomalías del desarrollo diagnosticadas en la unidad de ecografía del servicio de medicina materno fetal de la Maternidad Concepción Palacios entre enero y diciembre de 2023. Métodos: Estudio retrospectivo, descriptivo, transversal que incluyó la evaluación de los 4225 reportes de ultrasonido obstétrico realizados en 2023. Se excluyeron los estudios sin diagnóstico morfológico. Las variables evaluadas fueron características clínicas de las gestantes, prevalencia según tipo de anomalía del desarrollo y según el aparato o sistema afectado. Resultados: Se diagnosticaron anomalías del desarrollo en 282 pacientes, para una frecuencia de 6,7 %. Las anomalías fueron únicas en 187 casos (66,3 %) y múltiples en 95 pacientes (33,7 %). El total de malformaciones fue 360 (8,5 %). El mínimo de lesiones detectadas fue una y el máximo fue tres. El sistema afectado con mayor frecuencia fue el sistema nervioso central, con 104 casos (28,9 %); le siguen, en orden de frecuencia, los marcadores aislados, vistos en 92 pacientes (25,6 %) y las anomalías cardiovasculares, en 49 fetos (13,6 %). Conclusión: La frecuencia de malformaciones congénitas diagnosticadas en el año 2023 fue de 6,7 % de las ecografías realizadas en la unidad de ecografía del servicio de medicina materno fetal de la Maternidad Concepción Palacios; en las dos terceras partes de los casos fueron únicas y el tercio restante fueron múltiples. En orden de frecuencia, los sistemas afectados fueron sistema nervioso central, marcadores aislados de aneuploidías y anomalías cardiovasculares(AU)

Objective: To identify and classify the different developmental anomalies diagnosed in the ultrasound unit of the maternal-fetal medicine service of the Concepción Palacios Maternity Hospital between January and December 2023. Methods: Retrospective, descriptive, cross-sectional study that included the evaluation of the 4225 obstetric ultrasound reports performed in 2023. Studies without morphological diagnosis were excluded. The variables evaluated were clinical characteristics of the pregnant women, prevalence according to type of developmental anomaly and according to the affected apparatus or system. Results: Developmental abnormalities were diagnosed in 282 patients, with a frequency of 6.7%. The anomalies were single in 187 cases (66.3%) and multiple in 95 patients (33.7%). The total number of malformations was 360 (8.5%). The minimum number of injuries detected was one and the maximum was three. The most frequently affected system was the central nervous system, with 104 cases (28.9%); This is followed by isolated markers, seen in 92 patients (25.6%), and cardiovascular anomalies, in 49 fetuses (13.6%). Conclusion: The frequency of congenital malformations diagnosed in 2023 was 6.7% of the ultrasound scans performed in the ultrasound unit of the maternal-fetal medicine service of the Concepción Palacios Maternity Hospital; Two-thirds of the cases were singles and the remaining third were multiples. In order of frequency, the affected systems were central nervous system, isolated markers of aneuploidies, and cardiac anomalies(AU)

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The study of the remains of Nesophontes micrus Allen, 1917 and N. major Arredondo, 1970 from El Abrón Cave (Republic of Cuba, Pinar del Río Province, Late Pleistocene) allowed to establish for the first time anomalies of the dentition in Nesophontidae. Failures of eruption of teeth (impaction of I3 in N. micrus, retention or impaction of P2 in N. major), as well as malformations (aberrant I3 in N. micrus, P2 and P4 in N. major), are the developmental abnormalities. The absence of P2 and M2 in combination with reossification of their alveoli in N. major is caused by dental injuries and diseases.

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OBJECTIVE: Here we present the first known examples of brachydactyly from an Andean archaeological context by describing the affected bones, presenting a differential diagnosis, and discussing the cultural implications of there being shortened metapodials in multiple tombs. MATERIALS: 3232 well-preserved tubular bones representing an MNI of 250 human adults. METHODS: Each bone was visually inspected. Measurements were taken with an osteometric board, sliding calipers, and a flexible tape measure. RESULTS: Of 1210 metapodials excavated from eight burial contexts, ten were atypically short. CONCLUSIONS: The ten shortened elements represent an MNI of three individuals with brachydactyly from two tombs. The presence of at least two individuals with brachydactyly in one tomb adds support to a previous suggestion that tombs were used for familial interment. It is plausible that the third individual from a different tomb was related to the other two, and the different burial contexts may reflect postmarital practices. SIGNIFICANCE: These cases offer insight into tomb use and underscore the importance of identifying rare developmental anomalies in the archaeological record as their presence may indicate genetic relationships within or among archaeological cemeteries. LIMITATIONS: With commingled contexts and incomplete recovery of skeletal remains, individualizing the brachydactylous elements was not possible. There is also a lack of comparative data from other Andean sites. SUGGESTIONS FOR FURTHER RESEARCH: Identify more Andean cases of brachydactyly to learn if the relatively frequent involvement of the first digit is more common among Andean skeletal samples than North American, or if it is unique to Marcajirca.

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OBJECTIVE: This study considers the evidence for elevated frequencies of "rare" diseases in ancient Panama. Indications of population isolation by multidisciplinary sources allow for the possibility that rare inherited conditions may have been maintained at relatively high prevalences in the region due to gene flow restriction. MATERIALS: A sample of 267 skeletal human remains with diverse demographical characteristics from Pre-Columbian archaeological sites throughout Panama. METHODS: Remains were analyzed macroscopically and hard tissue developmental anomalies were documented. RESULTS: Frequencies of developmental anomalies and hard tissue changes consistent with specific rare genetic diseases, such as osteogenesis imperfecta, on the comparatively few human remains recovered from pre-Columbian archaeological sites are elevated as compared with global averages. CONCLUSIONS: The paleopathological evidence is concordant with a scenario of isolation in Pre-Columbian times and with an increased presence of genetic disorders in the population. SIGNIFICANCE: This study advocates for the special consideration of rare diseases by paleopathologists in regions where populations may have experienced prolonged geographical or social isolation in the past. LIMITATIONS: A dearth of local modern epidemiological data and low sample sizes of preserved human remains in certain regions of the country limited the possibilities of spatiotemporal comparisons of rare disease prevalence. SUGGESTIONS FOR FURTHER RESEARCH: Further scrutiny of developmental anomalies of genetic origin on ancient Panamanian remains and biomolecular testing of remains for specific disorders should be pursued to confirm the findings of this study.

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La pentalogía de Cantrell fue descrita por vez primera en 1958, y consiste en 5 defectos. Tiene una incidencia estimada de 5,5 por 1 millón de nacidos vivos, y su patogénesis no está esclarecida. Se presenta un caso en el que se diagnosticó prenatalmente este defecto de baja frecuencia(AU)

Pentalogy of Cantrell was firstly described in 1958 and consists of 5 defects. It has an estimated incidence rate of 5.5 per one million livebirths and the pathogenesis is not clarified. This is the case of a prenatal diagnosis of this low frequency defect(AU)

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La pentalogía de Cantrell fue descrita por vez primera en 1958, y consiste en 5 defectos. Tiene una incidencia estimada de 5,5 por 1 millón de nacidos vivos, y su patogénesis no está esclarecida. Se presenta un caso en el que se diagnosticó prenatalmente este defecto de baja frecuencia

Pentalogy of Cantrell was firstly described in 1958 and consists of 5 defects. It has an estimated incidence rate of 5.5 per one million livebirths and the pathogenesis is not clarified. This is the case of a prenatal diagnosis of this low frequency defect

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El frenillo labial superior doble no sindrómico es una anomalía del desarrollo que no hemos encontrado reportada en la revisión bibliográfica realizada. Se presenta una niña de 11 años de edad que fue remitida al servicio de Cirugía Maxilofacial del Hospital Eduardo Agramonte Piña , de Camagüey, por presentar un frenillo labial superior doble de baja inserción. Se describen los síntomas clínicos asociados a esta anomalía y el tratamiento quirúrgico utilizado para su solución: una frenectomía y plastia sobre la banda muscular frénica anormal que provocaba exceso de tejido en la mucosa labial. Consideramos muy interesante la descripción de este caso, por no haber encontrado reporte similar en la literatura revisada(AU)

Non-syndromic double frenulum of the superior lip is a developmental anomaly that was not found as reported in our literature review. This is the case of an eleven-years old girl who was referred to the maxillofacial surgery service of Eduardo Agramonte Pina hospital in Camaguey, with a diagnosis of double frenulum of the superior lip of low insertion. The clinical symptoms linked to this anomaly and the surgical treatment applied to this case were described in this paper: frenectomy and frenoplasty upon the abnormal muscular band of the frenulum that brought excessive amount of tissue in the lip mucosa. The description of this case was considered to be very interesting since no similar report had been found in the reviewed literature(AU)

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El frenillo labial superior doble no sindrómico es una anomalía del desarrollo que no hemos encontrado reportada en la revisión bibliográfica realizada. Se presenta una niña de 11 años de edad que fue remitida al servicio de Cirugía Maxilofacial del Hospital Eduardo Agramonte Piña , de Camagüey, por presentar un frenillo labial superior doble de baja inserción. Se describen los síntomas clínicos asociados a esta anomalía y el tratamiento quirúrgico utilizado para su solución: una frenectomía y plastia sobre la banda muscular frénica anormal que provocaba exceso de tejido en la mucosa labial. Consideramos muy interesante la descripción de este caso, por no haber encontrado reporte similar en la literatura revisada

Non-syndromic double frenulum of the superior lip is a developmental anomaly that was not found as reported in our literature review. This is the case of an eleven-years old girl who was referred to the maxillofacial surgery service of Eduardo Agramonte Pina hospital in Camaguey, with a diagnosis of double frenulum of the superior lip of low insertion. The clinical symptoms linked to this anomaly and the surgical treatment applied to this case were described in this paper: frenectomy and frenoplasty upon the abnormal muscular band of the frenulum that brought excessive amount of tissue in the lip mucosa. The description of this case was considered to be very interesting since no similar report had been found in the reviewed literature

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PURPOSE: Morphological dental anomalies of the maxillary lateral incisors are relatively common. However, their simultaneous occurrence is a relatively rare event. We report a case of dens invaginatus and talon cusp concurrently affecting maxillary lateral incisors. The etiology, pathophysiology, association with other dental anomalies, as well as various treatment modalities of these anomalies are discussed. CASE DESCRIPTION: An 18-year-old male patient reported with a complaint of crowding of maxillary front teeth. On intraoral examination, permanent dentition with Class I malocclusion with anterior crowding was observed. Tooth 12 showed a radiopaque invagination from a lingual pit but confined to the crown of the tooth. This invagination was approximately circular with a central core of radiolucency, which was consistent with the diagnosis of a dens invaginatus type I. Tooth 22 showed the talon cusp as a typical inverted cone with enamel and dentine layers and a pulp horn extending only into the base of the cusp. Talon cusp was treated by prophylactic enameloplasty to avoid plaque accumulation, the deep lingual pit was sealed using composite resin and regular clinical and radiographic follow-up was advised. Patient was scheduled for orthodontic treatment to correct crowding of maxillary anterior teeth. CONCLUSION: We emphasize the fact that detailed clinical and radiographic examination of the maxillary lateral incisors is vital in avoiding complications.

OBJETIVO: Anomalias morfológicas dentárias dos incisivos laterais superiores são relativamente comuns. No entanto, a sua ocorrência simultânea é um evento relativamente raro. Relatamos um caso de dens invaginatus e cúspide talon simultaneamente afetando incisivos laterais superiores. A etiologia, fisiopatologia, associação com outras anomalias dentárias, bem como várias modalidades de tratamento destas anomalias são discutidas. DESCRIÇÃO DO CASO: Um paciente de 18 anos, sexo masculino, relatou com queixa de apinhamento dos dentes anteriores superiores. Ao exame intraoral observou-se dentição permanente com má oclusão Classe I com apinhamento anterior. O dente 12 mostrou uma invaginação radiopaca lingual, confinada à coroa do dente. Esta invaginação era aproximadamente circular, com um núcleo central de radioluscência, que foi compatível com o diagnóstico de dens invaginatus tipo I. O dente 22 apresentou uma cúspide talon como um cone invertido típico com esmalte e dentina em camadas. A cúspide talon foi tratada por ameloplastia profilática para evitar acúmulo de placa, a fissura lingual foi selada com resina composta e foram aconselhados controles clínicos e radiográficos. O paciente foi encaminhado para tratamento ortodôntico para corrigir o apinhamento dos dentes anteriores superiores. CONCLUSÃO: Enfatizamos o fato de que o exame clínico e radiográfico detalhado dos incisivos laterais superiores é vital para evitar complicações.

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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.

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.

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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)

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