title: Report of a case of Raine syndrome and literature review.
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.
authors.affiliation: Division of Neonatology, Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
authors.forename: Mohammed Zain
authors.initials: MZ
authors.lastname: Seidahmed
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Anas M
authors.initials: AM
authors.lastname: Alazami
authors.affiliation: Division of Neonatology, Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
authors.forename: Omer Bashir
authors.initials: OB
authors.lastname: Abdelbasit
authors.affiliation: Division of Neonatology, Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
authors.forename: Khalid
authors.initials: K
authors.lastname: Al Hussein
authors.affiliation: Division of Neonatology, Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
authors.forename: Abeer M
authors.initials: AM
authors.lastname: Miqdad
authors.affiliation: Division of Neonatology, Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
authors.forename: Omar
authors.initials: O
authors.lastname: Abu-Sa'da
authors.affiliation: Department of Radiology, Security Forces Hospital, Riyadh, Saudi Arabia.
authors.forename: Tareq
authors.initials: T
authors.lastname: Mustafa
authors.affiliation: Department of Obstetrics and Gynecology, Security Forces Hospital, Riyadh, Saudi Arabia.
authors.forename: Sarah
authors.initials: S
authors.lastname: Bahjat
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.|Department of Anatomy and Cell Biology, College of Medicine, Al Faisal University, Riyadh, Saudi Arabia.
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002114:Calcinosis / Q000473:pathology; D047389:Casein Kinase I / Q000235:genetics*; D003241:Consanguinity; D005094:Exophthalmos / Q000473:pathology; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D054082:Lissencephaly / Q000473:pathology; D008297:Male; D009154:Mutation; D010026:Osteosclerosis / Q000473:pathology; D010375:Pedigree
chemical_list: D016326:Extracellular Matrix Proteins; D047389:Casein Kinase I; C524449:FAM20C protein, human
keywords: Raine syndrome; exophthalmos; hypoplastic nose; intracranial calcification; osteosclerosis; pachygyria