[Fronto-nasal dysplasia (apropos of 4 cases)].
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005546:Forehead / Q000002:abnormalities*; D006801:Humans; D007569:Jaw Abnormalities / Q000235:genetics*; D008046:Lip / Q000002:abnormalities*; D008297:Male; D009666:Nose / Q000002:abnormalities*; D013577:Syndrome
La dysplasie fronto-nasale (à propos de quatre observations).