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  • Title: Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia.
    Author: Brewster TG, Lachman RS, Kushner DC, Holmes LB, Isler RJ, Rimoin DL.
    Journal: Am J Med Genet; 1985 Feb; 20(2):249-54. PubMed ID: 3976718.
    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.
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