Premium
INTESTINAL AGANGLIONOSIS IN THE SMITH‐LEMLI‐OPITZ SYNDROME
Author(s) -
ŽIŽKA J.,
MAREŠOVÁ J.,
KEREKEŠ Z.,
NOŽIČKA Z.,
JÜTTNEROVÁ V.,
BALÍCEK P.
Publication year - 1983
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1983.tb09683.x
Subject(s) - smith–lemli–opitz syndrome , medicine , autopsy , ileum , anatomy , terminal ileum , biology , biochemistry , 7 dehydrocholesterol reductase , reductase , enzyme
. Two unrelated cases with clinical and autopsy findings of the Smith‐Lemli‐Opitz syndrome are described. Narrowing of the terminal ileum and congenital intestinal aganglionosis was found in both. This is a rare association and the importance of microscopic examination of the intestine in cases of the Smith‐Lemli‐Opitz syndrome is emphasized.