Resumo

HERRERA-MARTINEZ, Aura D  e  ESTRADA-CORONA, Pedro. Spondylo-epiphyseal dysplasia associated with craniosynostosis, cleft palate and mental retardation: A case report. Invest. clín [online]. 2010, vol.51, n.4, pp.553-560. ISSN 0535-5133.

Skeletal dysplasias are a heterogeneous group of disorders characterized by an alteration of the organization of osseous tissue causing a distortion on the growth and development pattern of bones. In 1998, four Japanese sibs were described by the first time, three males and one female who presented a previously undescribed spondylo-epiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate and different grades of mental retardation. A probable autosomic recessive inheritance was suggested, but a germinal mosaicism could not be discarded. This is a case report of a patient with clinical and radiological findings similar to the ones previously described, born to second degree consanguineous parents. This supports the postulated presumption of a mutation with an autosomic recesive inheritance. The present comunication represents the fifth case reported in the literature and the second familiar group affected

Palavras-chave : skeletal dysplasia; craniosynostosis; cataracts; cleft palate; mental retardation.

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