Wieczorek D, Gillessen-Kaesbach G, Plewa S, Passarge E
Institut für Humangenetik, Universitätsklinikum, Essen, Germany.
Clin Genet. 1996 Feb;49(2):98-102. doi: 10.1111/j.1399-0004.1996.tb04337.x.
We report on a 4-year-old boy with short stature, microcephaly, BNS (Blitz-Nick-Salaam) seizures, and global developmental delay. In addition, small and fleshy hands and feet as well as hypoplastic scrotum and testes were observed. The clinical features of the patient are compared with the patients previously described by Wiedemann et al. and Nevin et al. They reported three patients with a syndrome characterized by short stature, microcephaly, global developmental delay, abnormalities of hands and feet, seizures, large anterior fontanelle, scrotal hypoplasia, micropenis, cryptorchism, urinary tract abnormalities, and inguinal hernia (Wiedemann syndrome).
我们报告了一名4岁男孩，患有身材矮小、小头畸形、BNS（闪电-尼克-萨拉姆）癫痫发作和全面发育迟缓。此外，还观察到其手脚短小多肉，阴囊和睾丸发育不全。将该患者的临床特征与Wiedemann等人和Nevin等人先前描述的患者进行了比较。他们报告了3例患有以身材矮小、小头畸形、全面发育迟缓、手脚异常、癫痫发作、前囟门大、阴囊发育不全、小阴茎、隐睾、泌尿系统异常和腹股沟疝为特征的综合征的患者（维德曼综合征）。
