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