Altıncık Ayça, Kaname Tadashi, Demir Korcan, Böber Ece
Department of Pediatrics, Dokuz Eylül Universitesi Tip Fakültesi Cocuk Hastanesi Inciralti, Izmir, Turkey.
J Pediatr Endocrinol Metab. 2013;26(3-4):385-8. doi: 10.1515/jpem-2012-0233.
Aarskog-Scott syndrome, also termed as faciogenital dysplasia, is an X-linked disorder consisting of short stature, craniofacial dysmorphism, shawl scrotum, cryptorchidism, and interdigital webbing. Cardiac and central nervous system abnormalities and behavioral disorders can also be detected. The gene responsible for the syndrome is called FGD1, located at Xp11.21. A 7-year-old boy was admitted to our hospital due to short stature. He was born to non-consanguineous parents after an uneventful term pregnancy. Orchiopexy for bilateral cryptorchidism was performed when he was 2 years old. At physical examination, his height was under 3 percentile, and he had broad nasal bridge, hypertelorism, wide philtrum, brachydactyly, and interdigital webbing. Cranial magnetic resonance imaging and echocardiography revealed normal findings. An eye examination showed amblyopia and astigmatism. The mother had short stature and interdigital webbing as well. Mutational analyses revealed a novel mutation (c.308-2G), hemizygous in the boy and heterozygous in the mother. Aarskog syndrome (faciogenital dysplasia) should be kept in mind in children with short stature and interdigital webbing.
阿斯克格-斯科特综合征，也称为面生殖器发育异常，是一种X连锁疾病，其特征包括身材矮小、颅面畸形、阴囊悬垂、隐睾症和指间蹼。还可检测到心脏和中枢神经系统异常以及行为障碍。导致该综合征的基因名为FGD1，位于Xp11.21。一名7岁男孩因身材矮小入院。他出生于非近亲结婚的父母，足月妊娠过程顺利。他2岁时接受了双侧隐睾的睾丸固定术。体格检查时，他的身高低于第3百分位，有宽鼻梁、眼距增宽、人中宽、短指畸形和指间蹼。头颅磁共振成像和超声心动图检查结果正常。眼科检查显示弱视和散光。母亲也有身材矮小和指间蹼。突变分析发现了一种新的突变（c.308-2G），男孩为半合子，母亲为杂合子。对于身材矮小和有指间蹼的儿童，应考虑阿斯克格综合征（面生殖器发育异常）。
