[Hypo-/aplasia of the nasal bones--an autosomal dominant inherited anomaly].
We report a family with isolated hypo- or aplasia of the nasal bones as an autosomal dominant trait. The conspicuous shape of the nose resembled that of "potato nose". This anomaly is caused by a specific developmental field defect of the medial nasal processes with no genetic relation to frontonasal "dysplasia". The minimal intrafamilial variation suggests a monogenic trait with an autosomal dominant mode of transmission. For the ENT practitioner it may be added that patients with hypo- or aplasia need no treatment unless a septal deviation causes nasal obstruction.
Ernst
M
M
Klinik und Poliklinik für Hals-, Nasen- und Ohrenkranke der Universität Erlangen-Nürnberg.
Schilbach
U
U
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000402:Airway Obstruction / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009295:Nasal Bone / Q000002:abnormalities*; D009300:Nasal Septum / Q000002:abnormalities; D010375:Pedigree
Hypo-/Aplasie der Nasenbeine--eine autosomal dominant vererbte Anomalie.