Melnick M, Shields E D
Clin Genet. 1976 Jan;9(1):20-4. doi: 10.1111/j.1399-0004.1976.tb01545.x.
The Aarskog syndrome is characterized by short stature with typical facial, digital and genital anomalies. A further case is reported which presented with the uncommon finding of ophthalmoplegia and three previously unreported oral-facial findings: enamel dysplasia, a "col" deformity of the anterior mandible and a paresis of the facial muscles innervated by the VII cranial nerve. The implications of genetic heterogeneity in this nosologic classification are discussed.
阿斯克格综合征的特征是身材矮小，并伴有典型的面部、手指和生殖器异常。本文报告了另一例病例，该病例出现了罕见的眼肌麻痹以及三种先前未报告的口腔面部表现：牙釉质发育不全、下颌前部的“col”畸形以及由第七颅神经支配的面部肌肉麻痹。文中讨论了这种疾病分类中基因异质性的影响。
