Spranger's syndrome I
A syndrome of disproportionate shortness of stature with short proximal parts of the extremities, flat face with mongoloid features, cataract, ichtyosiform skin changes, and multiple joint contractures. Inheritance is autosomal recessive.
- J. Spranger, et al:
Heterogeneity of chondrodysplasia punctata.
Humangenetik, Berlin, 1971, 11: 190-212.
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