A rare lethal osteosclerotic bone dysplasia. prenatal diagnosis, autopsy, and neuropathological findings

被引：25
作者：
Chitayat, David
Shannon, Patrick
Keating, Sarah
Toi, Ants
Blaser, Susan
Friedberg, Tami
Superti-Furga, Andrea
Chong, Karen
Unger, Sheila
机构：
[1] Univ Toronto, Mt Sinai Hosp, Prenatal Diag & Med Genet Program, Toronto, ON M5G 1X5, Canada
[2] Univ Toronto, Mt Sinai Hosp, Dept Pathol, Toronto, ON M5G 1X5, Canada
[3] Univ Toronto, Mt Sinai Hosp, Lab Med, Toronto, ON M5G 1X5, Canada
[4] Univ Toronto, Mt Sinai Hosp, Dept Diagnost Imaging, Toronto, ON M5G 1X5, Canada
[5] Univ Toronto, Hosp Sick Children, Div Diagnost Imaging & Neuroradiol, Toronto, ON M5G 1X8, Canada
[6] Inst Human Genet, Freiburg, Germany
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2007年 / 143A卷 / 24期
关键词：
raine syndrome; osteosclerosis; cloverleaf skull; nasal hypoplasia; hypertrophic gums; intracerebral calcifications; proptosis; desmosterolosis;
D O I：
10.1002/ajmg.a.32022
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Raine syndrome is an autosornal recessive condition with generalized osteosclerosis, characteristic facial dysmorphisin and brain abnormalities including intracerebral calcifications. We report on a case with Raine syndrome horn to nonconsanguineous couple and report the prenatal sonogram/MRI, the fetopathology, and neuropathology findings. (c) 2007 Wiley-Liss, Inc.
引用
收藏
页码：3280 / 3285
页数：6
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