ea0007p281 | Clinical case reports | BES2004
, Phillips I
, Conway E
Congenital adrenal hyperplasia(CAH) and other disorders of adrenal steroid synthesis compromise synthesis of cortisol and aldosterone. Deficiency of 7-dehydrocholesterol-7-ene-reductase (DHCR7) in the Smith Lemli Opitz syndrome (SLOS) also affects cholesterol synthesis. New-born infants have dysmorphic facial features, microcephaly, second and third toe syndactyly and genital malformations. Later there is mental retardation and problems with cardiac and intestinal function thr...