Kaufman oculocerebrofacial syndrome
| Kaufman oculocerebrofacial syndrome |
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Kaufman oculocerebrofacial syndrome is an autosomal recessive congenital disorder characterized by mental retardation, microbrachycephaly, long narrow face, upslanting palpebral fissures, eye abnormalities, highly arched palate, preauricular skin tags and small mandible.
It was characterized in 1971.[1]
Eight cases had been identified as of 1995.[2]
Genetics
It appears to be due to a mutation in the E3 ubiquitin protein ligase (UBE3B).[3]
References
- ^ Kaufman R, Rimoin D, Prensky A, Sly W (1971). "An oculocerebrofacial syndrome". Birth Defects Orig Artic Ser. 7 (1): 135–138. PMID 5006210.
- ^ Briscioli V, Manoukian S, Selicorni A, Livini E, Lalatta F (1995). "Kaufman oculocerebrofacial syndrome in a girl of 15 years". Am J Med Genet. 58 (1): 21–3. doi:10.1002/ajmg.1320580106. PMID 7573151.
- ^ Flex E, Ciolfi A, Caputo V, Fodale V, Leoni C, Melis D, Bedeschi MF, Mazzanti L, Pizzuti A, Tartaglia M, Zampino G (2013) Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome. J Med Genet
- Jurenka S, Evans J (1979). "Kaufman oculocerebrofacial syndrome: case report". Am J Med Genet. 3 (1): 15–9. doi:10.1002/ajmg.1320030106. PMID 112864.
- Figuera L, García-Cruz D, Ramírez-Dueñas M, Rivera-Robles V, Cantù J (1993). "Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation". Clin Genet. 44 (2): 98–101. doi:10.1111/j.1399-0004.1993.tb03855.x. PMID 8275567.
External links
- Kaufman oculocerebrofacial syndrome at NIH's Office of Rare Diseases
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