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

Citation
Jm. Mcgaughran et al., Precocious puberty, endometriosis, skeletal anomalies and mild hearing loss: a new autosomal dominant syndrome?, CLIN DYSMOR, 10(4), 2001, pp. 235-239
Citations number
18
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
CLINICAL DYSMORPHOLOGY
ISSN journal
09628827 → ACNP
Volume
10
Issue
4
Year of publication
2001
Pages
235 - 239
Database
ISI
SICI code
0962-8827(200110)10:4<235:PPESAA>2.0.ZU;2-A
Abstract
Two sisters presented at 13 and 15 years-of-age respectively with a history of precocious puberty, short stature, endometriosis and mild mixed bearing loss. They had mild learning difficulties and a number of skeletal feature s in common. Some of these features were present in their father, suggestin g a new autosomal dominant entity. Clin Dysmorphol 10: 235-239 (C) 2001 Lip pincott Williams & Wilkins.