Report of a case of Raine syndrome and literature review.

doi:10.1002/ajmg.a.37159

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Article

Report of a case of Raine syndrome and literature review.

American journal of medical genetics. Part A - 1 Oct 2015

Seidahmed Mohammed Zain, Alazami Anas M, Abdelbasit Omer Bashir, Al Hussein Khalid, Miqdad Abeer M, Abu-Sa'da Omar, Mustafa Tareq, Bahjat Sarah, Alkuraya Fowzan S

Abstract excerpt

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...

Topics

Abnormalities, Multiple
Calcinosis
Casein Kinase I
Consanguinity
Exophthalmos
Extracellular Matrix Proteins
Humans
Infant, Newborn
Lissencephaly
Male
Mutation
Osteosclerosis
Pedigree

Source

Open in PubMed

Identifiers

PMID: 25974638
DOI: 10.1002/ajmg.a.37159

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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