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Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus

✍ Scribed by Stratton, Robert F. ;Bluestone, Daniel L.


Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
465 KB
Volume
41
Category
Article
ISSN
0148-7299

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Oto-palato-digital syndrome, type IIβ€”an
✍ Brewster, Thomas G. ;Lachman, Ralph S. ;Kushner, David C. ;Holmes, Lewis B. ;Isl πŸ“‚ Article πŸ“… 1985 πŸ› John Wiley and Sons 🌐 English βš– 304 KB

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-pala