MRI in Smith-Lemli-Opitz syndrome type I

被引：0
|
作者：
Guido Trasimeni
Claudio Di Biasi
Massimo Iannilli
Lorenzo Orlandi
Brunetto Boscherini
Rina Balducci
Gian Franco Gualdi
机构：
[1] Universitá di Roma “La Sapienza”,CT and MR Unit, la Clinica Medica
[2] Universitá di Roma “Tor Vergata”,Servizio di Neuropsichiatria Infantile
来源：
Child's Nervous System | 1997年 / 13卷
关键词：
Smith-Lemli-Opitz syndrome; MRI; Brain anomalies;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
We describe a single case of a polymalformational syndrome in which the MR findings were of great help in the final diagnosis of Smith-Lemli-Opitz syndrome (SLOS) type I. MRI was performed for evaluation of the brain morphology since the clinical and laboratory findings were suggestive but not unequivocally indicative of SLOS. MRI findings of frontal lobe hypoplasia, cortical migration defect, and abnormalities of median line structures prompted the final diagnosis of SLOS.
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页码：47 / 49
页数：2
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