Resumo

GONDRES ARGOTE, Rolando; SOCORRO FEBLES, Daysi; RONDON GARCIA, Osana Vilma  e  MELO VICTORES , Martha. Holt and Oram’s syndrome: A case report. Rev Cubana Ortop Traumatol [online]. 2000, vol.14, n.1-2, pp. 56-61. ISSN 1561-3100.

A case of musculoskeletal abnormalities and congenital heart disease with shortness of the left upper limb and interauricular communication (IAC), and absence of thumbs in both hands associated with foramen ovale-like narrow shoulders was presented. The clinical diagnosis was confirmed by complementary tests. Dominant autosomal inheritance is stressed in the Holt and Oram’s syndrome and, as no familiy history was found in our case, a genetic mutation was considered as the cause of the isolated appearance of this syndrome.

Palavras-chave : MUSCULOSKELETAL ABNORMALITIES; HEART DEFECTS, CONGENITAL; THUMB [abnormalities]; HAND [abnormalities]; FOREARM [abnormalities]; SHOULDER [abnormalities]; CHILD.

        · resumo em Espanhol | Francês     · texto em Espanhol     · Espanhol ( pdf )