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The ulnar‐mammary syndrome: an autosomal dominant pleiotropic gene


Schinzel, Albert; Illig, R; Prader, A (1987). The ulnar‐mammary syndrome: an autosomal dominant pleiotropic gene. Clinical Genetics, 32(3):160-168.

Abstract

A family is described in which four male patients spanning three generations present a consistent clinical entity, the major features of which include: ulnar finger and fibular toe ray defects; delayed growth and onset of puberty, obesity, hypogenitalism and diminished sexual activity; hypoplasia of nipples and apocrine glands with subsequently diminished ability to perspire. Additional Findings in single cases include pyloric, anal and subglottic stenosis. To date, another 12 patients in three families have been described with this syndrome. The condition appears to be inherited as an autosomal dominant trait with full penetrance and highly variable expression.

Abstract

A family is described in which four male patients spanning three generations present a consistent clinical entity, the major features of which include: ulnar finger and fibular toe ray defects; delayed growth and onset of puberty, obesity, hypogenitalism and diminished sexual activity; hypoplasia of nipples and apocrine glands with subsequently diminished ability to perspire. Additional Findings in single cases include pyloric, anal and subglottic stenosis. To date, another 12 patients in three families have been described with this syndrome. The condition appears to be inherited as an autosomal dominant trait with full penetrance and highly variable expression.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), genetics, anal stenosis, apocrine gland hypoplasia, autosomal dominant inheritance, delayed puberty, growth retardation, hypogenitalism, mammary gland hypoplasia, obesity, postaxial oligodactyly, pyloric stenosis, subglottic stenosis, ulnar-mammary syndrome, ulnar ray defects.
Language:English
Date:1 September 1987
Deposited On:25 Oct 2023 06:51
Last Modified:30 Mar 2024 04:47
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:0009-9163
OA Status:Closed
Publisher DOI:https://doi.org/10.1111/j.1399-0004.1987.tb03347.x
PubMed ID:3621662
Other Identification Number:Corpus ID: 37835229