Resumo

RODEIA, Joaquim et al. Braquidactilia congénita associada a Síndrome Oro-Facial-Digital tipo I . Rev. Port. Ortop. Traum. [online]. 2015, vol.23, n.4, pp.345-351. ISSN 1646-2122.

Introduction: Oro-Facial-Digital Syndrome (OFDS) comprises a heterogenous group of embrionary development disorders with oral, facial and digital malformations. There are at least 11 different forms, with a broad spectrum of clinical features. Treatment of manifestations is essentially surgical and it constitutes a challenge for the surgeon. We describe the surgical treatment of a rare case of brachydactyly associated with OFDS type I (OFDS1). Case report: 20-year-old male with congenital brachydactyly involving the 3rd metacarpal on his left hand associated with OFDS1. The patient underwent proximal metaphyseal osteotomy of the 3rd left metacarpal and distraction osteogenesis with monolateral external fixator for restoring metacarpal length. At 3 years follow up he is satisfied with the result and he has no pain; the metacarpo-phalangeal joint has no flexion limitation but a 20º limitation of extension. Discussion: Techniques involving osteotomy and intercalary bone grafting have been used in the first cases of brachydactyly. Distraction osteogenesis was applied in hand surgery in 1970 by Matev in metacarpals and phalanges reconstruction after amputation. Currently there is no consensus on the most appropriate method to correct brachydactyly. In this patient the metacarpal lengthening was achieved by distraction osteogenesis with good functional and cosmetic final results.

Palavras-chave : oro-facial-digital syndrome; brachydactyly; metacarpal; lengthening; distraction osteogenesis.

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