Chitayat D, Davis E B, McGillivray B C, Hayden M R, Hall J G
University of British Columbia, Clinical Genetics Unit, Grace Hospital, Vancouver, Canada.
Clin Genet. 1989 Mar;35(3):161-6. doi: 10.1111/j.1399-0004.1989.tb02923.x.
Four patients with Prader-Willi syndrome, diagnosed in the neonatal period and followed during the first year of life, are reported. There were three males and one female. All four patients presented with hypotonia and distinct craniofacial dysmorphism. Prometaphase chromosome analysis showed interstitial deletion of 15q in all of them. The placentae and umbilical cords were examined in three of the patients and found normal. Electromyography done in the neonatal period suggested primary myopathy. Height, weight and head circumference were normal at birth in all patients. Hand and foot measurements showed normal size at birth and during the first year of life.
报告了4例在新生儿期被诊断为普拉德-威利综合征并在出生后第一年接受随访的患者。其中3例为男性，1例为女性。所有4例患者均表现为肌张力减退和明显的颅面部畸形。前中期染色体分析显示他们均存在15q间质缺失。对其中3例患者的胎盘和脐带进行了检查，结果正常。新生儿期进行的肌电图检查提示原发性肌病。所有患者出生时身高、体重和头围均正常。出生时及出生后第一年的手足测量显示尺寸正常。
