RESUMO
We describe a two and half year old male child with acrodysostosis, presenting with nasal hypoplasia, peripheral dysostosis (gross shortening of hands and feet), cone-shaped epiphysis, advanced bone age, and mental retardation. He and his mother also had bilateral first ray hyperplasia of the feet thereby expressing the autosomal dominant inheritance pattern.
Assuntos
Pré-Escolar , Transtornos Cromossômicos/diagnóstico , Disostoses/diagnóstico , Epífises/patologia , Deformidades Congênitas do Pé/etiologia , Genes Dominantes , Deformidades Congênitas da Mão/etiologia , Humanos , Hiperplasia , Masculino , Deficiência Intelectual/genética , SíndromeAssuntos
Adolescente , Estatura , Fácies , Dedos/anormalidades , Deformidades Congênitas da Mão/etiologia , Humanos , Masculino , Escroto/anormalidades , SíndromeRESUMO
Central aplasia represent under 10% of congenital malformations of the hand. It is characterized by the partial or complete absence of the median ray. We adopted the classification of swanson and considered this anomaly a stop of median longitudinal development. We separate 2 groups: hand in folk: the aplasia interested only the median digits, all metacarpal are present. Hand in lobster's pincer: all median rays are absent including the metacarpal. We report a set of 16 children carriers of 23 central aplasia of the hand, it was about 14 hands in lobster pincer and 9 hands in folk. In any case, the gene was merely aesthetic, the hand's function was complete. A child has been operated, and benefitted a closing of the median crack defect, he had a free thumb. For the other cases, abstention has been decided indeed to close this cracks deprive these hands of a first corner the alone present
Assuntos
Humanos , Masculino , Feminino , Deformidades Congênitas da Mão/classificação , Deformidades Congênitas da Mão/etiologia , Mãos , CriançaRESUMO
Se presentó un caso de anomalías musculoesqueléticas y cardiopatía congénita con acortamiento del miembro superior izquierdo y CIA, ausencia de pulgares en ambas manos asociado a hombros estrechos tipo foramen oval. Se realizaron exámenes complementarios que confirman el diagnóstico clínico. En el síndrome de Holt y Oram se señala herencia autosómica dominante y al no encontrar antecedentes familiares en nuestro caso, se planteó una mutación genética como causa de la aparición aislada de este síndrome