Smith-lemli-opitz syndrome (cerebrohepatorenal syndrome)

General: Autosomal recessive; similarities with trisomy 18 syndrome; prognosis po 444b13e or, with death in early infancy (see Zellweger Syndrome); onset in fetal life; prevalent in males; reduced myelination in the cerebral hemispheres, cranial nerves, and peripheral nerves secondary to a defective cholesterol biosynthesis.

Ocular: Joining of the eyebrows (synophrys); ptosis (bilateral); pronounced epicanthal folds; strabismus; nystagmus; cataract; optic nerve demyelinization.

Clinical: Mental retardation; microcephaly; hypertonia; low-set ears; high-arched palate; failure to thrive; vomiting; hypospadias; cryptorchidism; metatarsus adductus.

Harbin RL, et al. Sclerocornea associated with the Smith-Lemli Opitz syndrome. Am J Ophthalmol 1977; 84: 72-73.

Kretzer FL, et al. Ocular manifestation of the Smith-Lemli-Opitz syndrome. Arch Ophthalmol 1981; 99:2000-2006.

Nevo S. 'Smith-Lemli-Opitz syndrome' in an inbred family. Am J Dis Child 1972; 124:431.

Setchell KD, et al. Oral bile acid treatment and the patient with Zellweger syndrome. Hepatology 1992; 15:198-207.

Smith DW, et al. Newly recognized syndrome of multiple anomalies. J Pediatr 1964; 64:210.

Tint GS, et al. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 1994; 330:107-l13.