ABSTRACT
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.
Subject(s)
Child, Preschool , Chromosome Disorders/diagnosis , Dysostoses/diagnosis , Epiphyses/pathology , Foot Deformities, Congenital/etiology , Genes, Dominant , Hand Deformities, Congenital/etiology , Humans , Hyperplasia , Male , Intellectual Disability/genetics , SyndromeSubject(s)
Adolescent , Body Height , Facies , Fingers/abnormalities , Hand Deformities, Congenital/etiology , Humans , Male , Scrotum/abnormalities , SyndromeABSTRACT
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
Subject(s)
Humans , Male , Female , Hand Deformities, Congenital/classification , Hand Deformities, Congenital/etiology , Hand , ChildABSTRACT
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