Hassinger D D, Mulvihill J J, Chandler J B
J Med Genet. 1980 Jun;17(3):235-8. doi: 10.1136/jmg.17.3.235.
A 23-year-old man with Aarskog's syndrome had Hirschspring's disease, midgut malrotation, a renal cyst, a cartilaginous projection of the pinna, geographic tongue, and dental anomalies. The family history, negative for these features, including several malignancies. Any or all of these features could be considered part of Aarskog's syndrome and may represent anomalies of neural crest development.
一名患有阿斯克格综合征的23岁男性患有先天性巨结肠、中肠旋转不良、肾囊肿、耳廓软骨突出、地图舌和牙齿异常。家族史中这些特征呈阴性,包括几种恶性肿瘤。这些特征中的任何一个或全部都可被视为阿斯克格综合征的一部分,可能代表神经嵴发育异常。