The Coffin-Lowry syndrome: An inherited faciodigital mental retardation syndrome

Samia A. Temtamy, J. Daniel Miller, Irene Hussels-Maumenee

Research output: Contribution to journalArticle

Abstract

Eight patients in three families had mental retardation, characteristic facies and hands, and skeletal changes;the clinical features suggested to us that they had a syndrome previously thought to represent two entities described by Lowry and associates1 and by Coffin and associates,2 respectively. New findings include skeletal, orodental, and dermatoglyphic abnormalities and histopathologic changes suggesting that the syndrome is a heritable disorder of connective tissue. Severe expression in males and transmission through mildly affected females suggest X-linked or sex-influenced autosomal dominant inheritance.

Original languageEnglish (US)
Pages (from-to)724-731
Number of pages8
JournalJournal of Pediatrics
Volume86
Issue number5
DOIs
StatePublished - 1975
Externally publishedYes

Fingerprint

Coffin-Lowry Syndrome
Intellectual Disability
Dermatoglyphics
Connective Tissue
Hand

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

The Coffin-Lowry syndrome : An inherited faciodigital mental retardation syndrome. / Temtamy, Samia A.; Miller, J. Daniel; Hussels-Maumenee, Irene.

In: Journal of Pediatrics, Vol. 86, No. 5, 1975, p. 724-731.

Research output: Contribution to journalArticle

Temtamy, Samia A. ; Miller, J. Daniel ; Hussels-Maumenee, Irene. / The Coffin-Lowry syndrome : An inherited faciodigital mental retardation syndrome. In: Journal of Pediatrics. 1975 ; Vol. 86, No. 5. pp. 724-731.
@article{c395ab17e16746bdb881aa2bd5c04f0e,
title = "The Coffin-Lowry syndrome: An inherited faciodigital mental retardation syndrome",
abstract = "Eight patients in three families had mental retardation, characteristic facies and hands, and skeletal changes;the clinical features suggested to us that they had a syndrome previously thought to represent two entities described by Lowry and associates1 and by Coffin and associates,2 respectively. New findings include skeletal, orodental, and dermatoglyphic abnormalities and histopathologic changes suggesting that the syndrome is a heritable disorder of connective tissue. Severe expression in males and transmission through mildly affected females suggest X-linked or sex-influenced autosomal dominant inheritance.",
author = "Temtamy, {Samia A.} and Miller, {J. Daniel} and Irene Hussels-Maumenee",
year = "1975",
doi = "10.1016/S0022-3476(75)80357-X",
language = "English (US)",
volume = "86",
pages = "724--731",
journal = "Journal of Pediatrics",
issn = "0022-3476",
publisher = "Mosby Inc.",
number = "5",

}

TY - JOUR

T1 - The Coffin-Lowry syndrome

T2 - An inherited faciodigital mental retardation syndrome

AU - Temtamy, Samia A.

AU - Miller, J. Daniel

AU - Hussels-Maumenee, Irene

PY - 1975

Y1 - 1975

N2 - Eight patients in three families had mental retardation, characteristic facies and hands, and skeletal changes;the clinical features suggested to us that they had a syndrome previously thought to represent two entities described by Lowry and associates1 and by Coffin and associates,2 respectively. New findings include skeletal, orodental, and dermatoglyphic abnormalities and histopathologic changes suggesting that the syndrome is a heritable disorder of connective tissue. Severe expression in males and transmission through mildly affected females suggest X-linked or sex-influenced autosomal dominant inheritance.

AB - Eight patients in three families had mental retardation, characteristic facies and hands, and skeletal changes;the clinical features suggested to us that they had a syndrome previously thought to represent two entities described by Lowry and associates1 and by Coffin and associates,2 respectively. New findings include skeletal, orodental, and dermatoglyphic abnormalities and histopathologic changes suggesting that the syndrome is a heritable disorder of connective tissue. Severe expression in males and transmission through mildly affected females suggest X-linked or sex-influenced autosomal dominant inheritance.

UR - http://www.scopus.com/inward/record.url?scp=0016812249&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0016812249&partnerID=8YFLogxK

U2 - 10.1016/S0022-3476(75)80357-X

DO - 10.1016/S0022-3476(75)80357-X

M3 - Article

C2 - 1133653

AN - SCOPUS:0016812249

VL - 86

SP - 724

EP - 731

JO - Journal of Pediatrics

JF - Journal of Pediatrics

SN - 0022-3476

IS - 5

ER -