Raine syndrome
From Wikipedia, the free encyclopedia
| Raine syndrome Classification and external resources |
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| OMIM | 259775 |
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Raine syndrome (RNS), also called osteosclerotic bone dysplasia, is a rare autosomal recessive congenital disorder characterized by craniofacial anomalies including microcephaly, exophthalmos, midface hypoplasia, cleft palate, gum hypertrophy and generalized osteosclerosis on radiography. It is usually lethal within a few hours after birth.
[edit] References
- Kan A, Kozlowski K (1992). "New distinct lethal osteosclerotic bone dysplasia (Raine syndrome).". Am J Med Genet 43 (5): 860–4. doi:. PMID 1642277.
- Rejjal A (1998). "Raine syndrome.". Am J Med Genet 78 (4): 382–5. doi:. PMID 9714445.
- Rickert C, Rieder H, Rehder H, Hülskamp G, Hörnig-Franz I, Louwen F, Paulus W (2002). "Neuropathology of Raine syndrome.". Acta Neuropathol (Berl) 103 (3): 281–7. doi:. PMID 11907809.
- Al-Gazali L, Jehier K, Nazih B, Abtin F, Haas D, Sadagahatian R (2003). "Further delineation of Raine syndrome.". Clin Dysmorphol 12 (2): 89–93. doi:. PMID 12868469.
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