Raine syndrome: A clinical, radiographic and genetic investigation of a case from the Indian subcontinent

Clinical Dysmorphology

Volumn 19, Issue 3, 2010, Pages 153-156

  Kochar, Gurpreet Singh ^a   Choudhary, Anita ^a   Gadodia, Ankur ^a   Gupta, Neerja ^a   Simpson, Michael A ^b   Crosby, Andrew H ^b   Kabra, Madhulika ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^b ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME PROTEIN; PROTEIN FAM20; UNCLASSIFIED DRUG;

ARTICLE; ARTIFICIAL VENTILATION; BONE DYSPLASIA; CASE REPORT; CAUSE OF DEATH; CLINICAL FEATURE; DISEASE EXACERBATION; FEVER; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; INFANT; MALE; PNEUMONIA; PRIORITY JOURNAL; PTOSIS; RAINE SYNDROME; RESPIRATORY DISTRESS; SEPSIS;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; EXONS; EXTRACELLULAR MATRIX PROTEINS; FATAL OUTCOME; FEMALE; HOMOZYGOTE; HUMANS; INDIA; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; PREGNANCY; SYNDROME;

EID: 77953541185     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32833a22c5     Document Type: Article

References (13)

1. 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.
2. Al-Mane K, Al-Dayel F, McDonald P (1998). Intracranial calcification in Raine syndrome: radiological pathological correlation. Pediatr Radiol 28:820-823.
3. 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.
4. 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.
5. Kan AE, Kozlowski K (1992). New distinct lethal osteosclerotic bone dysplasia (Raine syndrome). Am J Med Genet 43:860-864.
6. Kingston HM, Freeman JS, Hall CM (1991). A new lethal sclerosing bone dysplasia. Skeletal Radiol 20:117-119.
7. Mahafza T, El Shanti H, Omari H (2001). Raine syndrome: report of a case with hand and foot anomalies. Clin Dysmorphol 10:227-229.
8. 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.
9. 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.
10. 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.
11. 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.
12. 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.
13. 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.