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SA Orthopaedic Journal

versão On-line ISSN 2309-8309
versão impressa ISSN 1681-150X


BERTIE, JD; THOMPSON, D  e  BEIGHTON, P. Cleidocranial dysplasia presenting as familial coxa vara in a South African family. SA orthop. j. [online]. 2011, vol.10, n.2, pp.34-38. ISSN 2309-8309.

BACKGROUND: We have studied a South African family in which four persons in three generations had bilateral coxa vara. The proband, a boy aged 4 years, presented with a disturbance of gait. His affected father and uncle had been assessed and operated on by the first named consultant (DT), and his grandmother by DT's father. METHOD: We performed a general and orthopaedic examination as well as a radiologic skeletal survey of the above four family members. RESULTS: The proband's clinical and radiological assessment showed facial features and clavicular changes in keeping with cleidocranial dysplasia, an autonomous autosomal dominant genetic disorder. Radiographs of his hips revealed bilateral coxa vara deformities. The proband's father, uncle and grandmother also had similar facial and clavicular features of cleidocranial dysplasia. Their hip radiographs showed evidence of previous internal fixation subsequent to proximal femoral osteotomies. CONCLUSION: Cleidocranial dysplasia is relatively common in South Africa and this condition warrants consideration as a diagnosis in any person with familial coxa vara.

Palavras-chave : cleidocranial dysplasia; coxa vara; familial.

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