The pathological anatomy of the Smith-Lemli-Opitz syndrome.
Two cases of the Smith-Lemli-Opitz syndrome are described, together with the autopsy findings. In both cases, the typical appearance and visceral malformations were present. Hypoplasia of the frontal lobes and corpus callosum, and aplasia of the splenium constitute abnormalities of the brain which may be useful in the diagnosis of this disorder at autopsy. The autosomal recessive mode of inheritance of this syndrome was confirmed.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001344:Autopsy; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003878:Dermatoglyphics; D005260:Female; D006130:Growth Disorders / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D013577:Syndrome