A case of Smith-Lemli-Opitz syndrome, defect of cholesterol biosynthesis

被引：2
|
作者：
Domizio, S.
Pallotta, R.
Romanelli, A.
Puglielli, C.
Pollice, R.
Casacchia, M.
Conte, E.
Domizio, R.
Sabatino, G.
机构：
[1] Univ G DAnnunzio, Neonatal Intens Care Unit, Osped Policlin, I-66100 Chieti, Italy
[2] Univ G DAnnunzio, Reg Serv Diag Prevent & Care Birth Defects, I-66100 Chieti, Italy
[3] Univ Aquila, Dept Expt Med, I-67100 Laquila, Italy
来源：
INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY | 2006年 / 19卷 / 02期
关键词：
inborn defects of cholesterol biosynthesis; growth deficiency; multiple malformations; Smith-Lemli-Opitz Syndrome;
D O I：
10.1177/039463200601900220
中图分类号：
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号：
100102 ;
摘要：
We report the case of a child with Smith-Lemli-Opitz Syndrome. The pregnancy was complicated by prenatal growth retardation. The baby was admitted to the Neonatal Intensive Care Unit of Chieti when she was five months old. She showed postnatal growth retardation, trouble sucking and swallowing, microcefaly and multiple major and minor malformations, including characteristic facial features and 2-3 syndactyly of the toes. We found correlations between multiple congenital malformations, failure to thrive and low plasmatic cholesterol measurement.
引用
收藏
页码：439 / 442
页数：4
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