Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency

J. E. Wise, Reuben Matalon, A. M. Morgan, E. R B McCabe

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26 Citations (Scopus)

Abstract

Two unrelated boys with congenital adrenal hypoplasia and glycerol kinase deficiency were found to have similar features, including characteristic facies, 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
StatePublished - 1987
Externally publishedYes

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Muscular Dystrophies
Hyperglycerolemia
X-linked adrenal hypoplasia congenita

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency. / Wise, J. E.; Matalon, Reuben; Morgan, A. M.; McCabe, E. R B.

In: American Journal of Diseases of Children, Vol. 141, No. 7, 1987, p. 744-747.

Research output: Contribution to journalArticle

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