Precocious puberty, endometriosis, skeletal anomalies and mild hearing loss: a new autosomal dominant syndrome?

ABSTRACT

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.