Teebi A S, Rucquoi J K, Meyn M S
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
Am J Med Genet. 1993 Jun 15;46(5):501-9. doi: 10.1002/ajmg.1320460508.
Five individuals in one family, including dizygotic male twins, a half brother and their mother, had Aarskog syndrome (AS). Phenotypic variability is wide not only between mother and sons but also between sibs. Collectively, the affected relatives have the full spectrum of findings seen in AS. Based on analysis of this family and others from the literature, we derive primary and secondary diagnostic criteria for AS. Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip, mild interdigital webbing with short and broad hands, short fifth finger with clinodactyly, and shawl scrotum. Secondary criteria include: abnormal auricles with fleshy lobules, posteriorly angulated ears, widow's peak, ptosis, downward slant of palpebral fissures, joint hyperextensibility, broad feet with bulbous toes, cryptorchidism, inguinal hernia, and prominent umbilicus. Literature pertaining to the clinical manifestations and genetics of AS is reviewed and nosology of similar syndromes is discussed.
一个家庭中的五名成员，包括异卵双胞胎男性、一个同父异母的兄弟及其母亲，患有阿斯克格综合征（AS）。表型变异性不仅在母亲和儿子之间很大，在兄弟姐妹之间也很大。总体而言，受影响的亲属具有AS中所见的全部症状。基于对这个家庭和文献中其他家庭的分析，我们得出了AS的主要和次要诊断标准。主要标准包括：身材矮小、眼距增宽、短鼻伴鼻孔前倾、上颌发育不全、下唇下方有褶皱、轻度指间蹼伴短而宽的手、第五指短并向尺侧弯曲、阴囊呈披肩状。次要标准包括：耳廓异常伴肉质耳垂、耳朵向后成角、美人尖、上睑下垂、睑裂向下倾斜、关节过度伸展、宽脚伴球状脚趾、隐睾、腹股沟疝和脐突出。回顾了有关AS临床表现和遗传学的文献，并讨论了类似综合征的分类学。
