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Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: A new autosomal dominant syndrome

✍ Scribed by Whyte, Michael P. ;Petersen, Deborah J. ;McAlister, William H.

Publisher: John Wiley and Sons
Year: 1990
Tongue: English
Weight: 468 KB
Volume: 36
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320360308

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✦ Synopsis

We describe a family with a new disorder characterized by congenital hypotrichosis and spondyloepimetaphyseal dysplasia that results in mild rhizomelic short stature. Five individuals in 3 generations are affected with autosomal dominant inheritance.

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