Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: a new autosomal dominant syndrome.
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.
Whyte
M P
MP
Metabolic Research Unit, Shriners Hospital for Crippled Children, St. Louis, MO 63131.
Petersen
D J
DJ
McAlister
W H
WH
D000293:Adolescent; D000328:Adult; D000368:Aged; D000505:Alopecia / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007039:Hypotrichosis / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography