Article
Kaufman oculocerebrofacial syndrome in a girl of 15 years.
American journal of medical genetics - 31 Jul 1995
Briscioli V, Manoukian S, Selicorni A, Livini E, Lalatta F
Abstract excerpt
Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet. To our knowledge only 8 cases have been reported so far, diagnosed at a mean age of 10 years. We report on a girl who was diagnosed at 15 years. Further phenotypic delineation is needed to improve diagnosis of...
Topics
- Abnormalities, Multiple
- Adolescent
- Child
- Eye Abnormalities
- Facial Bones
- Female
- Foot Deformities, Congenital
- Genes, Recessive
- Hand Deformities, Congenital
- Humans
- Male
- Phenotype