Report of a case of Raine syndrome and literature review

被引:21
|
作者
Seidahmed, Mohammed Zain [1 ]
Alazami, Anas M. [2 ]
Abdelbasit, Omer Bashir [1 ]
Al Hussein, Khalid [1 ]
Miqdad, Abeer M. [1 ]
Abu-Sa'da, Omar [1 ]
Mustafa, Tareq [3 ]
Bahjat, Sarah [4 ]
Alkuraya, Fowzan S. [2 ,5 ]
机构
[1] Secur Forces Hosp, Dept Pediat, Div Neonatol, Riyadh, Saudi Arabia
[2] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
[3] Secur Forces Hosp, Dept Radiol, Riyadh, Saudi Arabia
[4] Secur Forces Hosp, Dept Obstet & Gynecol, Riyadh, Saudi Arabia
[5] Al Faisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia
关键词
Raine syndrome; osteosclerosis; intracranial calcification; hypoplastic nose; exophthalmos; pachygyria; OSTEOSCLEROTIC BONE DYSPLASIA; INTRACRANIAL CALCIFICATION; FAM20C; MUTATIONS; DELINEATION;
D O I
10.1002/ajmg.a.37159
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report on a case of Raine syndrome with a mutation in FAM20C and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal atresia, wide fontanelle, exophthalmos, generalized osteosclerosis and intracranial calcification. New features in our patient are cerebellar hypoplasia and pachygyria. We review the literature and conclude that the triad of hypoplastic nose, exophthalmos and generalized osteosclerosis and/or intracranial calcification is consistent in all molecularly confirmed cases. (c) 2015 Wiley Periodicals, Inc.
引用
收藏
页码:2394 / 2398
页数:5
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