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Am J Med Genet. 1985 Feb;20(2):249-54.

Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia.

Abstract

We report on two male infants with a lethal skeletal dysplasia characterized by cleft palate, midface hypoplasia, downward-slanting palpebral fissures, small thorax, and bowed limbs with absent fibulae. The clinical and radiographic changes are similar to those seen in the recently proposed oto-palato-digital syndrome, type II [Fitch et al, 1983]. The disorder is X-linked with heterozygous females being more mildly affected.

PMID:
3976718
[PubMed - indexed for MEDLINE]
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