Rosselli–Gulienetti syndrome
| Rosselli–Gulienetti syndrome |
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Rosselli–Gulienetti syndrome,[1] also known as Zlotogora–Ogur syndrome[2] and Bowen–Armstrong syndrome,[3] is a type of congenital ectodermal dysplasia syndrome. The syndrome is relatively rare[4] and has only been described in a few cases.
Signs and symptoms
There is a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance,[4] and caused by a mutation affecting the TP63 gene.[5] It has been suggested that this syndrome, AEC syndrome and Rapp–Hodgkin syndrome may be variations of the same disease.[6]
Treatment
There is no specific treatment or cure for individuals affected with this type of syndrome, though some of the abnormal physical features may be surgically correctable.[3]
References
- ^ Rosselli, D.; Gulienetti, R. (1961). "Ectodermal dysplasia". British Journal of Plastic Surgery. 14: 190–204. doi:10.1016/S0007-1226(61)80036-2.
- ^ ORPHANET - About rare diseases - About orphan drugs
- ^ a b Bowen-Armstrong Syndrome
- ^ a b Bowen, P; Armstrong HB (1976). "Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs". Clin. Genet. 9 (1): 35–42. doi:10.1111/j.1399-0004.1976.tb01547.x. PMID 174848.
- ^ Dianzani I, Garelli E, Gustavsson P, et al. (2003). "Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene" (Free full text). J. Med. Genet. 40 (12): e133. doi:10.1136/jmg.40.12.e133. PMC 1735338. PMID 14684701.
- ^ Zenteno JC, Venegas C, Kofman-Alfaro S (1999). "Evidence that AEC syndrome and Bowen--Armstrong syndrome are variable expressions of the same disease". Pediatr Dermatol. 16 (2): 103–107. doi:10.1046/j.1525-1470.1999.99009.x. PMID 10337671.
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