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

J M McGaughran, Julie McGaughran, David Price, Price DA, D A Price, B. A. Kerr, Kerr BA
Clinical dysmorphology · 2001 · vol. 10(4) , pp. 235–239 · doi:10.1097/00019605-200110000-00001 · PMID:11665996 · W2051721612
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Two sisters presented with precocious puberty, short stature, endometriosis, mild hearing loss, learning difficulties, and skeletal anomalies, with some features present in their father, suggesting a new autosomal dominant syndrome.

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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.

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Condition tags

endometriosis

MeSH descriptors

Bone and Bones Endometriosis Hearing Loss, Sensorineural Puberty, Precocious Adolescent Adolescent Adult Adult Bone and Bones Bone and Bones Child Child Endometriosis Endometriosis Endometriosis Family Health Family Health Female Female Genes, Dominant

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Cites (3)

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References (17)

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