Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 167, Issue 10, Pages 2394-2398Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.37159
Keywords
Raine syndrome; osteosclerosis; intracranial calcification; hypoplastic nose; exophthalmos; pachygyria
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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.
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