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

M. P. Whyte, D. J. Petersen, W. H. McAlister

Section of Pediatric Radiology

Research output: Contribution to journal › Article › peer-review

15 Scopus citations

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.

Original language	English
Pages (from-to)	288-291
Number of pages	4
Journal	American journal of medical genetics
Volume	36
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.1320360308
State	Published - 1990

Keywords

alopecia
autosomal dominant inheritance
bone disease
ectodermal dysplasia

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title = "Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: A new autosomal dominant syndrome",

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.",

keywords = "alopecia, autosomal dominant inheritance, bone disease, ectodermal dysplasia",

author = "Whyte, \{M. P.\} and Petersen, \{D. J.\} and McAlister, \{W. H.\}",

year = "1990",

doi = "10.1002/ajmg.1320360308",

language = "English",

volume = "36",

pages = "288--291",

journal = "American journal of medical genetics",

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T1 - Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations

T2 - A new autosomal dominant syndrome

AU - Whyte, M. P.

AU - Petersen, D. J.

AU - McAlister, W. H.

PY - 1990

Y1 - 1990

N2 - 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.

AB - 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.

KW - alopecia

KW - autosomal dominant inheritance

KW - bone disease

KW - ectodermal dysplasia

UR - https://www.scopus.com/pages/publications/0025295907

U2 - 10.1002/ajmg.1320360308

DO - 10.1002/ajmg.1320360308

M3 - Article

C2 - 2363424

AN - SCOPUS:0025295907

SN - 0148-7299

VL - 36

SP - 288

EP - 291

JO - American journal of medical genetics

JF - American journal of medical genetics

IS - 3

ER -

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

Abstract

Keywords

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