Spranger's syndrome I
Related people
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.
Bibliography
- J. Spranger, et al:
Heterogeneity of chondrodysplasia punctata.
Humangenetik, Berlin, 1971, 11: 190-212.
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