A new probably autosomal recessive cardiomelic dysplasia with mesoaxial hexadactyly

AUTOR(ES)

Martínez, R Martínez Y

RESUMO

A distinct probably autosomal recessive syndrome was ascertained in a 17-year-old boy and his deceased sister. The main features were cardiac dysplasia, peculiar facies, central bilateral (mesoaxial) hexadactyly, synmetacarpalia, short stature, ocular torticollis, and delayed puberty.

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