Resumo

FRANCO-BUENAVENTURA, Daniela; RAMIREZ-CHEYNE, Julián  e  SALDARRIAGA-GIL, Wilmar. Ehlers-Danlos syndrome, musculocontractural variant. A case report. Iatreia [online]. 2016, vol.29, n.3, pp.352-358. ISSN 0121-0793.  https://doi.org/10.17533/udea.iatreia.v29n3a09.

Ehlers-Danlos syndrome comprises a group of hereditary disordes that share skin hyperextensibility, joint hipermobility and tissular fragility manifested as diminished tensile strenght and integrity of skin and joints. The estimated frequency, for the whole group, is

1 in 5.000 to 1 in 10.000 people. Nevertheless, the exact prevalence and incidence are unknown. One of the described subtypes of Ehlers-Danlos is the musculocontractural, whose primary characteristics include typical craneofacial dysmorphism, congenital thumb and fingers contractures, club foot, kyphoscoliosis, muscular hypotony, thin hyperextensible skin, easy bruising, atrophic scaring, acrogeria, joint hypermobility, and ocular problems. We present a case of this variant and a brief literature review.

Palavras-chave : Congenital Abnormalities; Connective Tissue Diseases; Ehlers-Danlos Syndrome.

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