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Am J Med Genet. 1997 Aug 22;71(3):283-8.

Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation.

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1
Department of Radiology, Hôpital Bichat, Paris, France.

Abstract

We report on two sibs with a rare lethal chondrodysplasia born to a non-consanguineous couple. The hallmarks of this affection, also called Blomstrand chondrodysplasia, are short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and a remarkable advance in skeletal maturation. We describe the radiologic and pathologic manifestations in these two cases. This recurrence affecting a male and a female fetus, born to the same couple, suggests autosomal recessive inheritance.

PMID:
9268097
[Indexed for MEDLINE]
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