Format

Send to

Choose Destination
J Pediatr. 1975 May;86(5):724-31.

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 associates and by Coffin and associates, 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.

PMID:
1133653
DOI:
10.1016/s0022-3476(75)80357-x
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center