Fontaine G, Walbaum R, Poupard B, Bonte C, Dhellemmes P, Maquet E, Ythier H, Stevenard C
J Genet Hum. 1983 Dec;31 Suppl 5:351-65.
Four cases of frontonasal dysplasia are reported in two boys and two girls. Clinical diagnosis was made at 16 months in one case and sooner in 3 cases (1 month-3 1/2 months) in presence of following features: severe hypertelorism (4/4), paramedian lip and palate cleft (3/4), nose root broadering (4/4), bifid or cleft nose tip (3/4), window's peak (3/4) mediofrontal swelling (4/4), cranium bifidum occultum (2/4). Many abnormalities were associated: conduction deafness (1/4), goldenhar syndrome (1/4), GH deficiency (1/4), etc... In three cases when cerebral investigation was possible, it was pointed out: corpus callosum agenesis (3/3), hydrocephalus (3/3), Dandy-Walker cyst (2/3). Caryotype is normal in whole cases which are sporadic. Two children are dead. The two alive remaining have severe mental impairment.
