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July 1987

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

Author Affiliations

From Sections of Endocrinology (Dr Wise), Genetics (Dr Matalon), and Developmental Pediatrics (Dr Morgan), Department of Pediatrics, University of Illinois College of Medicine, Peoria and Chicago; and the Institute for Molecular Genetics, Baylor College of Medicine, Houston (Dr McCabe).

Am J Dis Child. 1987;141(7):744-747. doi:10.1001/archpedi.1987.04460070046020

• 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.

(AJDC 1987;141:744-747)