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Report of a case of Raine syndrome and literature review
Author(s) -
Seidahmed Mohammed Zain,
Alazami Anas M.,
Abdelbasit Omer Bashir,
Al Hussein Khalid,
Miqdad Abeer M.,
AbuSa'da Omar,
Mustafa Tareq,
Bahjat Sarah,
Alkuraya Fowzan S.
Publication year - 2015
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.37159
Subject(s) - exophthalmos , medicine , calcification , choanal atresia , osteosclerosis , anatomy , surgery , radiology , atresia
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. © 2015 Wiley Periodicals, Inc.