Precocious puberty, endometriosis, skeletal anomalies and mild hearing loss: a new autosomal dominant syndrome?
Two sisters presented at 13 and 15 years-of-age respectively with a history of precocious puberty, short stature, endometriosis and mild mixed hearing loss. They had mild learning difficulties and a number of skeletal features in common. Some of these features were present in their father, suggesting a new autosomal dominant entity.
McGaughran
J M
JM
University Department of Medical Genetics and Regional Genetic Service, St Mary's Hospital, Manchester, UK.
Price
D A
DA
Kerr
B A
BA
D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D004715:Endometriosis / Q000175:diagnosis* / Q000235:genetics; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D011629:Puberty, Precocious / Q000175:diagnosis* / Q000235:genetics