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MCA/MR syndrome with hypocholesterolemia related to familial dominant hypobetalipoproteinemia
Author(s) -
Nguyen Karine,
Sigaudy Sabine,
Philip Nicole
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20186
Subject(s) - hypocholesterolemia , medicine , smith–lemli–opitz syndrome , cholesterol , endocrinology , pediatrics , biology , biochemistry , 7 dehydrocholesterol reductase , reductase , enzyme
Recent reports have emphasized the role of cholesterol in vertebrate embryonic development. The RSH or so‐called Smith–Lemli–Opitz syndrome (SLOS) was the first multiple congenital anomalies/mental retardation syndrome related to a cholesterol synthesis disturbance. Familial hypobetalipoproteinemia is a well‐known dominantly inherited entity in which affected individuals usually are free of symptoms. We report on the unusual association of a malformation syndrome with mental retardation resembling SLOS and profound hypocholesterolemia related to familial hypobetalipoproteinemia. We discuss the possible causal relationship between the two conditions and the current understanding of the role of cholesterol in normal embryogenesis. © 2003 Wiley‐Liss, Inc.