18p- Syndrome

18p- Syndrome (18p Deletion Syndrome)

General: Chromosome 18p deletion syndrome.

Ocular: Hypertelorism, epicanthus, horizontal palpebral fissures.

Clinical: Microcephaly, round face, broad-based nose, "carp mouth," microretrognathic; pterygium colli; dysplastic and low-set ears; clinodactyly; failure to grow; muscular hypotony; mental retardation; hypoplastic male genitalia.

Gocke H, Muradow I, Stein W The fetal phenotype of the 18p- syndrome. Report of a male fetus at twenty-one weeks. Ann Genet 1988; 31:60-64.

Zumel RM, et al. The 18p- syndrome. Report of five cases. Ann Genet 1989; 32:160-163.