期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 161, 期 12, 页码 3155-3160出版社
WILEY
DOI: 10.1002/ajmg.a.36160
关键词
Raine syndrome; 7p22; 3 deletion; FAM20C; aCGH; wormian bones
资金
- King Abdullah International Medical Research Centre (KAIMRC)
Raine syndrome is an autosomal recessive disorder caused by mutations in the FAM20C gene that is characterized by generalized osteosclerosis with periosteal new bone formation and distinctive craniofacial dysmorphism. We report on a child who is homozygous for a 487-kb deletion in 7p22.3 that contains FAM20C. Both parents were heterozygous for the deletion. Our patient had the common craniofacial features as well as, uncommon features such as protruding tongue, short stature, and hypoplastic distal phalanges. In addition, he had wormian bones and pyriform aperture stenosis, features that are usually under diagnosed. It is clear that Raine syndrome has a wide range of expression and may not be lethal in the neonatal period. Furthermore, Raine cases due to whole gene deletion do not seem to have a major difference in the phenotype over those caused by various mutations. (c) 2013 Wiley Periodicals, Inc.
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