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 language||English (US)|
|Number of pages||4|
|Journal||American Journal of Diseases of Children|
|State||Published - 1987|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health