[Frontonasal dysplasia. Case report and review of the literature].
FND is a non-uniform malformation complex with symptoms ranging between severe hypertelorism with bidfid nose and cranium bidfidum occultum with agenesis of the corpus callosum. Etiology and pathogenesis are discussed on the basis of a case history and some hints regarding differential diagnosis and genetic counselling are given. The exclusively sporadic occurrence of FND tells against a hereditary pathomechanism. Consequently, there is no recurrence risk. However, in families with an affected child, malformations generally tend to occur a little more often.
Lorenz
P
P
Abteilung für Klinische Genetik, Medizinischen Akademie, Carl Gustav Carus Dresden.
Prager
B
B
Tellkamp
H
H
D000015:Abnormalities, Multiple / Q000235:genetics; D061085:Agenesis of Corpus Callosum; D002552:Cerebral Ventricles / Q000002:abnormalities; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D009666:Nose / Q000002:abnormalities*
Die Frontonasale Dysplasie. Falldemonstration und Literaturübersicht.