Acrorenal syndrome: further observations.
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.
Houlston
R
R
Department of Clinical Genetics, Royal Free Hospital School of Medicine, Hampstead, London, UK.
MacDermot
K
K
D000015:Abnormalities, Multiple; D000328:Adult; D004065:Digestive System Abnormalities; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D005836:Genitalia, Female / Q000002:abnormalities*; D006228:Hand Deformities, Congenital; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D017880:Limb Deformities, Congenital; D008297:Male; D013577:Syndrome