The Smith-Lemli-Opitz syndrome. A detailed pathological study as a clue to a etiological heterogeneity.
An analysis of 33 autopsied cases with the Smith-Lemli-Opitz syndrome (including 8 cases from our practice) is presented. Polydactyly in dead SLOS children was found in 51% (17/33) of cases and occurred significantly more often in this group than in the whole group of SLOS (20-22%). Certain morphological differences in the type of renal, cerebral, pulmonary and pancreatic anomalies indicate the existence of two phenotypically similar SLOS: 1) with polydactyly; 2) without it. The presented data initiate SLOS heterogeneity.
D000015:Abnormalities, Multiple / Q000473:pathology*; D002490:Central Nervous System / Q000002:abnormalities*; D004065:Digestive System Abnormalities; D005121:Extremities / Q000098:blood supply / Q000294:innervation; D005145:Face / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D007515:Islets of Langerhans / Q000002:abnormalities*; D017880:Limb Deformities, Congenital; D008168:Lung / Q000002:abnormalities*; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014551:Urinary Tract / Q000002:abnormalities*