| Kaufman oculocerebrofacial syndrome | |
| Classification and external resources | |
| OMIM | 244450 |
|---|---|
| eMedicine | / |
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.
References
- Kaufman R, Rimoin D, Prensky A, Sly W (1971). "An oculocerebrofacial syndrome.". Birth Defects Orig Artic Ser 7 (1): 135–138. PMID 5006210.
- Jurenka S, Evans J (1979). "Kaufman oculocerebrofacial syndrome: case report.". Am J Med Genet 3 (1): 15–9. doi:. 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. doi:. PMID 7573151.
External links
- Kaufman oculocerebrofacial syndrome at NIH's Office of Rare Diseases
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