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

✍ Scribed by Brewster, Thomas G. ;Lachman, Ralph S. ;Kushner, David C. ;Holmes, Lewis B. ;Isler, Robert J. ;Rimoin, David L. ;Opitz, John M. ;Reynolds, James F.

Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
304 KB
Volume
20
Category
Article
ISSN
0148-7299

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✦ Synopsis

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 I1 [Fitch et al, 19831. The disorder is X-linked with heterozygous females being more mildly affected.

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