9p- Syndrome
General: Congenital mental retardation 313i86d 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-l6.
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.
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