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The pathological anatomy of the Smith‐Lemli‐Opitz syndrome
Author(s) -
Cherstvoy E. D.,
Lazjuk G. I.,
Lurie I. W.,
Nedzved M. K.,
Usoev S. S.
Publication year - 1975
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1975.tb00345.x
Subject(s) - smith–lemli–opitz syndrome , autopsy , splenium , corpus callosum , hypoplasia , aplasia , anatomy , medicine , pathological , pathology , biology , magnetic resonance imaging , biochemistry , 7 dehydrocholesterol reductase , reductase , white matter , enzyme , radiology
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.