9p- Syndrome 888

General: Congenital mental retardation syndrome due to a 9p deletion.

Ocular: Mongoloid (down-slanting) eyes; usually glaucoma.

Clinical: Mental retardation; sociable personality; trigonocephaly; wide, flat nasal bridge; anteverted nostrils; long upper lip; short neck; long digits; predominance of finger whorls; choanal atresia; usually seizures.

Alfi OS, et al. The 9p- syndrome. Ann Genet 1976; 19:11-16.

Chaves-Carballo E, et al. Neurologic aspects of the 9p- syndrome. Pediatr Neurol 1985; 1:57-59.

Shashi V; Golden WL, Fryburg JS. Choanal atresia in a patient with the deletion (9p) syndrome. Am J Med Genet 1994; 49:88-90.