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
N1 - Funding Information:
From the Moore Clinic, Division of Medical Genetics, Department of Medicine, Johns Hopkins Hospital *Supported by postdoctoral Fellowshipf rom the National Foundation-March of Dimes. Assistant Professor of Human Genetics, National Research Center, Cairo, Egypt. **Supported by Research CareerD evelopment award GM70124 from the National Institutes of Health, Education and Welfare; Grant-ln-A idf rom Fightf or Sight, lnc.; a grant given to the Department of Medical Genetics, The Moore Clinic, by the National lnstitutes of Health: 5 PO1 GM 19489--Study of Human Genetics, 5 TO1 GM O0795--Medical Genetics Training Grant, and OPD-CRC , 1 MO1 RROO722--Heritable Disorders of Connective Tissue and Genetic Marker Studies. Also given was a grant by the National Foundation-March of Dimes--CRBS-322.
Copyright:
Copyright 2014 Elsevier B.V., All rights reserved.
PY - 1975/5
Y1 - 1975/5
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.
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U2 - 10.1016/S0022-3476(75)80357-X
DO - 10.1016/S0022-3476(75)80357-X
M3 - Article
C2 - 1133653
AN - SCOPUS:0016812249
SN - 0022-3476
VL - 86
SP - 724
EP - 731
JO - The Journal of pediatrics
JF - The Journal of pediatrics
IS - 5
ER -