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Oral Maxillofac Surg. 2011 Jun;15(2):103-6. doi: 10.1007/s10006-009-0202-4.

Genitopatellar syndrome, sensorineural hearing loss, and cleft palate.

Author information

1
Department of Phoniatrics and Pedaudiology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany. bergmann.corinna@mh-hannover.de

Abstract

INTRODUCTION:

Genitopatellar syndrome is characterized by absent/hypoplastic patellae, genital and renal abnormalities, dysmorphic facial features, and mental retardation. Cardiac anomalies, ectodermal dysplasia, and radio-ulnar synostosis have been suggested as additional features.

DISCUSSION:

We report on additional female patient with sensorineural hearing loss, cleft palate, and hypothyroidism in addition to known anomalies. Findings are discussed based on a literature review of the known patients with the genitopatellar syndrome.

PMID:
20182757
DOI:
10.1007/s10006-009-0202-4
[Indexed for MEDLINE]

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