Smith-Lemli-Opitz syndrome I (David W. Smith)
A syndrome of multiple abnormalities, comprising mental retardation, microcephaly, growth retardation, hypoplastic external genitalia and a characteristic facies with micrognathia and anteverted nostrils. Onset in fetal life; feeble fetal activity; at birth short stature. Cardiac, renal and vertebral abnormalities may be present. The eyes may show strabismuss, cataracts and ptosis.The condition is potentially lethal in infancy and survivors have severe mental retardation. Inheritance is autosomal recessive.
Smith, Lemli, and Opitz in 1964 described the disease picture in three unrelated boys. The authors later termed the disease picture RHS syndrome from the initial letters of the family names of the described patients.
- D. W. Smith, L. Lemli, J. M. Opitz:
A newly recognised syndrome of multiple congenital anomalies.
Journal of Pediatrics, St. Louis, 1964, 64: 210-217.
- J. M. Opitz, F. de la Cruz:
Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: Summary of an NICHD conference.
American Journal of Medical Genetics, New York, 1994, 50: 326-338.
- J. M. Opitz:
RSH/SLO («Smith-Lemli-Opitz») syndrome: Historical, genetic and developmental considerations.
American Journal of Medical Genetics, New York, 1994, 50: 344-346.