Phenotypic Features of Patients With Congenital Adrenal Hypoplasia and Glycerol Kinase Deficiency

Joyce E. Wise, Reuben Matalon, Andrew M. Morgan, Edward R.B. McCabe

Research output: Contribution to journalArticle

28 Scopus citations

Abstract

Two unrelated boys with congenital adrenal hypoplasia and glycerol kinase deficiency were found to have similar features, including characteristic fades, testicular abnormalities, short stature, psychomotor retardation, and muscular dystrophy. The resemblance of these boys to other patients described in the literature suggests that a distinct phenotypic syndrome occurs in children with congenital adrenal hypoplasia and glycerol kinase deficiency.

Original languageEnglish (US)
Pages (from-to)744-747
Number of pages4
JournalAmerican Journal of Diseases of Children
Volume141
Issue number7
DOIs
StatePublished - Jul 1987
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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