From Wikipedia, the free encyclopedia
Kaufman oculocerebrofacial syndrome
Classification & external resources
| OMIM |
244450 |
Kaufman oculocerebrofacial syndrome is an autosomal recessive disease characterized by mental retardation, microbrachycephaly, long narrow face, upslanting palpebral fissures, eye abnormalities, highly arched palate, preauricular skin tags and small mandible.
[edit] References
- Kaufman R, Rimoin D, Prensky A, Sly W (1971). "An oculocerebrofacial syndrome.". Birth Defects Orig Artic Ser 7 (1): 135-8. PMID 5006210.
- Jurenka S, Evans J (1979). "Kaufman oculocerebrofacial syndrome: case report.". Am J Med Genet 3 (1): 15-9. 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. PMID 8275567.
- 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. PMID 7573151.
