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

M P Whyte; D J Petersen; W H McAlister

doi:10.1002/ajmg.1320360308

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

Am J Med Genet. 1990 Jul;36(3):288-91. doi: 10.1002/ajmg.1320360308.

Authors

M P Whyte¹, D J Petersen, W H McAlister

Affiliation

¹ Metabolic Research Unit, Shriners Hospital for Crippled Children, St. Louis, MO 63131.

PMID: 2363424
DOI: 10.1002/ajmg.1320360308

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Aged
Alopecia / genetics*
Child
Child, Preschool
Female
Genes, Dominant
Humans
Hypotrichosis / diagnostic imaging
Hypotrichosis / genetics*
Male
Osteochondrodysplasias / diagnostic imaging
Osteochondrodysplasias / genetics*
Pedigree
Radiography