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Oto-palato-digital syndrome, type II--an X-linked
Brewster TG, Lachman RS, Kushner DC, Holmes LB, Isler RJ, Rimoin DL.
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]