title: Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent.
authors.affiliation: Departments of Pediatrics Radiology, All India Institute of Medical Sciences, New Delhi, India Clinical Developmental Sciences, St George's University of London, London, UK.
authors.forename: Gurpreet Singh
authors.initials: GS
authors.lastname: Kochar
authors.forename: Anita
authors.initials: A
authors.lastname: Choudhary
authors.forename: Ankur
authors.initials: A
authors.lastname: Gadodia
authors.forename: Neerja
authors.initials: N
authors.lastname: Gupta
authors.forename: Michael A
authors.initials: MA
authors.lastname: Simpson
authors.forename: Andrew H
authors.initials: AH
authors.lastname: Crosby
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D047389:Casein Kinase I; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006720:Homozygote; D006801:Humans; D007194:India; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D011247:Pregnancy; D011859:Radiography; D013577:Syndrome
chemical_list: D016326:Extracellular Matrix Proteins; D047389:Casein Kinase I; C524449:FAM20C protein, human
references.citation: Acosta AX, Peres LC, Chimelli LC, Pina-Neto JM 2000. Raine dysplasia: a Brazilian case with a mild radiological involvement. Clin Dysmorphol 9:99–101.
references.citation: Al-Mane K, Al-Dayel F, McDonald P 1998. Intracranial calcification in Raine syndrome: radiological pathological correlation. Pediatr Radiol 28:820–823.
references.citation: Chitayat D, Shannon P, Keating S, Toi A, Blaser S, Friedberg T, et al. 2007. Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. Am J Med Genet A 143:3280–3285.
references.citation: Hao J, Narayanan K, Muni T, Ramachandran A, George A 2007. Dentin Matrix protein 4 a novel secretory calcium-binding protein that modulates odontoblast differentiation. J Biol Chem 282:15357–15365.
references.citation: Kan AE, Kozlowski K 1992. New distinct lethal osteosclerotic bone dysplasia (Raine syndrome). Am J Med Genet 43:860–864.
references.citation: Kingston HM, Freeman JS, Hall CM 1991. A new lethal sclerosing bone dysplasia. Skeletal Radiol 20:117–119.
references.citation: Mahafza T, El Shanti H, Omari H 2001. Raine syndrome: report of a case with hand and foot anomalies. Clin Dysmorphol 10:227–229.
references.citation: Nalbant D, Youn H, Nalbant SI, Sharma S, Cobos E, Beale EG, et al. 2005. FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells. BMC Genomics 6:11.
references.citation: Patel PJ, Kolawole TM, Al Mofada S, Malabarey TM, Hulailah A 1992. Osteopetrosis: brain ultrasound and computed tomography findings. Eur J Pediatr 151:827–828.
references.citation: Raine J, Winter RM, Davey A, Tucker SM 1989. Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. J Med Genet 26:786–788.
references.citation: Shalev SA, Shalev E, Reich D, Borochowitz ZU 1999. Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation. Am J Med Genet 86:274–277.
references.citation: Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, et al. 2007. Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. Am J Hum Genet 81:906–912.
references.citation: Simpson MA, Scheuerle A, Hurst J, Patton MA, Stewart H, Crosby AH 2009. Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia. Clin Genet 75:271–276.