ABSTRACT
Holoprosencephaly is a brain malformation caused by abnormal division of the forebrain into two separate hemispheres. Abnormal structures of the central nervous system often occur with other midline forebrain and face failures. In this report we present a case of a prenatal diagnosis of holoprosencephaly.
Subject(s)
Holoprosencephaly/diagnostic imaging , Holoprosencephaly/embryology , Ultrasonography, Prenatal , Adult , Fatal Outcome , Female , Humans , Infant, Newborn , Pregnancy , Pregnancy Trimester, ThirdABSTRACT
Smith-Lemli-Opitz syndrome (SLOS) is a hereditary, autosomal recessive abnormality of cholesterol metabolism, leading to malformations of multiple organs. It is probably one of the most frequent metabolic disorders but variable clinical presentation makes the diagnosis of the syndrome difficult. The authors of the following work present a case report of prenatal diagnosis of SLOS in fetus with malformations of multiple organs and negative family history.
