Genitopatellar syndrome, sensorineural hearing loss, and cleft palate
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Corinna Bergmann & Susanne Spranger & Poupak Javaher & Martin Ptok
- چاپ و سال / کشور: 2010
Description
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.
Oral Maxillofac Surg (2011) 15:103–106 DOI 10.1007/s10006-009-0202-4 Published online: 25 February 2010
