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Apparently new syndrome of short stature, lumbar malsegmentation, and minor facial anomalies in two brothers.

作者信息

Leipälä J A, Kaitila I

机构信息

Children's Hospital, Helsinki, Finland.

出版信息

Am J Med Genet. 1994 Aug 1;52(1):103-7. doi: 10.1002/ajmg.1320520120.

Abstract

We describe a previously unrecognized syndrome in two brothers with short stature, webbed neck, unusual face, moderate malsegmentation of the lumbar spine, and unilateral Legg-Perthes-Calvé type "disease" of the hip. Autosomal recessive inheritance is proposed, although we cannot exclude the possibility of an X-linked recessive or an autosomal dominant condition with germinal mosaicism.

摘要

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