Toriello H V, Higgins J V, Walen A, Waterman D F
Am J Med Genet. 1985 May;21(1):131-5. doi: 10.1002/ajmg.1320210119.
We report on a family in which the propositus and two distant relatives have a wide nose, broad philtrum, and short columella, a fusion defect of the medial nasal processes. This anomaly resembles potato nose [Benjamins and Stibbe, Acta Otolaryngol 11:274-284, 1927] and bifid nose [Anyane-Yeboa et al, Am J Med Genet 17:561-563, 1984], which are also fusion anomalies of the medial nasal processes. Potato nose is an autosomal dominant trait, whereas bifid nose is likely heterogeneous. In this family autosomal recessive inheritance is likely, therefore suggesting that anomalies of the medial nasal processes are causally heterogeneous and represent a developmental field defect.
我们报告了一个家族，其中先证者和两名远亲具有宽鼻、宽人中及短鼻小柱，这是一种鼻内侧突融合缺陷。这种异常类似于马铃薯鼻[本杰明斯和斯蒂布，《耳鼻喉科学报》11:274 - 284，1927年]和双鼻[阿尼亚内 - 耶博阿等人，《美国医学遗传学杂志》17:561 - 563，1984年]，它们也是鼻内侧突融合异常。马铃薯鼻是常染色体显性性状，而双鼻可能具有异质性。在这个家族中，常染色体隐性遗传很可能存在，因此提示鼻内侧突异常在病因上具有异质性，代表一种发育场缺陷。
