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A child with sclerocornea, short limbs, short stature, and distinct facial appearance
1Department of Paediatric Genetics, Hospitals for Sick Children, London, U.K.
American Journal of Medical Genetics
|July 1, 1988
Abstract:
We describe a boy with sclerocornea, short limbs, short stature and a distinct facial appearance. The resemblance to other reports of affected sibs suggests that this is a newly recognised, autosomal recessive syndrome.