Ernst M, Schilbach U
Klinik und Poliklinik für Hals-, Nasen- und Ohrenkranke der Universität Erlangen-Nürnberg.
HNO. 1987 Nov;35(11):478-81.
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.
我们报告了一个以鼻骨孤立性发育不全或发育不良作为常染色体显性性状的家族。鼻子明显的形状类似“土豆鼻”。这种异常是由内侧鼻突的特定发育场缺陷引起的，与额鼻“发育异常”无遗传关系。家族内最小的变异表明这是一种具有常染色体显性遗传模式的单基因性状。对于耳鼻喉科医生来说，可以补充的是，鼻骨发育不全或发育不良的患者除非鼻中隔偏曲导致鼻塞，否则无需治疗。
