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Report of a case of Raine syndrome and literature review.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2015 Oct; Vol. 167A (10), pp. 2394-8. Date of Electronic Publication: 2015 May 14. - Publication Year :
- 2015
-
Abstract
- 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.<br /> (© 2015 Wiley Periodicals, Inc.)
- Subjects :
- Abnormalities, Multiple diagnosis
Abnormalities, Multiple pathology
Calcinosis pathology
Consanguinity
Exophthalmos pathology
Humans
Infant, Newborn
Lissencephaly pathology
Male
Osteosclerosis pathology
Pedigree
Abnormalities, Multiple genetics
Casein Kinase I genetics
Extracellular Matrix Proteins genetics
Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 167A
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 25974638
- Full Text :
- https://doi.org/10.1002/ajmg.a.37159