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

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

Research output: Contribution to journalArticlepeer-review

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
JournalThe Journal of pediatrics
Volume86
Issue number5
DOIs
StatePublished - May 1975

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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