Melnick–Needles syndrome
| Melnick–Needles syndrome |
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Melnick–Needles syndrome (MNS), also known as Melnick–Needles osteodysplasty, is an extremely rare congenital disorder that affects primarily bone development. Patients with Melnick–Needles syndrome have typical faces (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull.[1]
In males, the disorder is nearly always lethal in infancy. Lifespan of female patients might not be affected.
Melnick–Needles syndrome is associated with mutations in the FLNA gene[2][3] and is inherited in an X-linked dominant manner. As with many genetic disorders, there is no known cure to MNS.
The disorder was first described by John C. Melnick and Carl F. Needles in 1966 in two multi-generational families.[4]
References
- ^ Online Mendelian Inheritance in Man (OMIM): 309350
- ^ Robertson, S. P.; Twigg, S. R. F.; Sutherland-Smith, A. J.; Biancalana, V. R.; Gorlin, R. J.; Horn, D.; Kenwrick, S. J.; Kim, C. A.; Morava, E.; Newbury-Ecob, R.; Orstavik, K. H.; Quarrell, O. W. J.; Schwartz, C. E.; Shears, D. J.; Suri, M.; Kendrick-Jones, J.; Wilkie, C.; OPD-spectrum Disorders Clinical Collaborative Group; Becker, K.; Clayton-Smith, J.; Giovannucci-Uzielli, M.; Goh, D.; Grange, D.; Krajewska-Welasek, M.; Lacombe, D.; Morris, C.; Odent, S.; Savarirayan, R.; Stratton, R.; Superti-Furga, A.; Verloes, A. (2003). "Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans" (PDF). Nature Genetics. 33 (4): 487–491. doi:10.1038/ng1119. PMID 12612583.
- ^ Foley, C.; Roberts, K.; Tchrakian, N.; Morgan, T.; Fryer, A.; Robertson, S. P.; Tubridy, N. (2010). "Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome" (pdf). Molecular Syndromology. 1 (3). S. Karger AG: 121–126. doi:10.1159/000320184. PMC 2957847. PMID 21031081.
- ^ Melnick, J. C.; Needles, C. F. (1966). "An Undiagnosed Bone Dysplasia". American Journal of Roentgenology. 97: 39. doi:10.2214/ajr.97.1.39.
See also
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