Houlston R, MacDermot K
Department of Clinical Genetics, Royal Free Hospital School of Medicine, Hampstead, London, UK.
Clin Dysmorphol. 1992 Jan;1(1):23-8.
A 23-year-old female patient with the acrorenal syndrome is described. In addition to acral and renal malformations, she had anomalies of the gastrointestinal and genital tracts. An annular pancreas had caused duodenal obstruction and had been associated with malrotation of the bowel. Secondary sexual characteristics were absent; no ovaries were identified by pelvic ultrasound, and endocrine investigations were compatible with non-functioning ovaries.
本文描述了一名患有肢端-肾脏综合征的23岁女性患者。除了肢端和肾脏畸形外,她还存在胃肠道和生殖道异常。环状胰腺导致十二指肠梗阻,并伴有肠旋转不良。患者缺乏第二性征;盆腔超声未发现卵巢,内分泌检查结果提示卵巢无功能。