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Campomelic dysplasia: evidence of autosomal dominant inheritance.

1993; BMJ; Volume: 30; Issue: 8 Linguagem: Inglês

10.1136/jmg.30.8.683

1468-6244

Sally Ann Lynch, M L Gaunt, Adrian Minford,

Genomic variations and chromosomal abnormalities

We present a mother and daughter with clinical and radiological findings consistent with the diagnosis of campomelic dysplasia. Milder tibial bowing and significant shortening of the phalangeal bones of both hands and feet may distinguish this from the classical autosomal recessive form of the disease.