The Smith-Lemli-Opitz syndrome. A detailed pathological study as a clue to a etiological heterogeneity

E D Cherstvoy; G I Lazjuk; T I Ostrovskaya; I A Shved; G I Kravtzova; I W Lurie; A I Gerasimovich

doi:10.1007/BF00695225

The Smith-Lemli-Opitz syndrome. A detailed pathological study as a clue to a etiological heterogeneity

Virchows Arch A Pathol Anat Histopathol. 1984;404(4):413-25. doi: 10.1007/BF00695225.

Authors

E D Cherstvoy, G I Lazjuk, T I Ostrovskaya, I A Shved, G I Kravtzova, I W Lurie, A I Gerasimovich

PMID: 6437074
DOI: 10.1007/BF00695225

Abstract

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.

Publication types

Comparative Study

MeSH terms

Abnormalities, Multiple / pathology*
Central Nervous System / abnormalities*
Digestive System Abnormalities*
Extremities / blood supply
Extremities / innervation
Face / abnormalities*
Heart Defects, Congenital / pathology*
Humans
Infant, Newborn
Islets of Langerhans / abnormalities*
Limb Deformities, Congenital*
Lung / abnormalities*
Skull / abnormalities*
Syndrome
Urinary Tract / abnormalities*