caa a22 4500 445851406 CHVBK 20180317145414.0 cr unu---uuuuu 170323e20110601xx s 000 0 eng 10.1007/s10006-009-0202-4 doi (NATIONALLICENCE)springer-10.1007/s10006-009-0202-4 Genitopatellar syndrome, sensorineural hearing loss, and cleft palate [Elektronische Daten] [Corinna Bergmann, Susanne Spranger, Poupak Javaher, Martin Ptok] 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. Springer-Verlag, 2010 Genitopatellar syndrome nationallicence Sensorineural hearing loss nationallicence Cleft palate nationallicence Bergmann Corinna Department of Phoniatrics and Pedaudiology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany aut Spranger Susanne Private Practice of Human Genetics, Bremen, Germany aut Javaher Poupak Institute of Human Genetics, Hannover Medical School, Hannover, Germany aut Ptok Martin Department of Phoniatrics and Pedaudiology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany aut Oral and Maxillofacial Surgery Springer-Verlag 15/2(2011-06-01), 103-106 1865-1550 15:2<103 2011 15 10006 https://doi.org/10.1007/s10006-009-0202-4 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10006-009-0202-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Bergmann Corinna Department of Phoniatrics and Pedaudiology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany aut NATIONALLICENCE 700 1- Spranger Susanne Private Practice of Human Genetics, Bremen, Germany aut NATIONALLICENCE 700 1- Javaher Poupak Institute of Human Genetics, Hannover Medical School, Hannover, Germany aut NATIONALLICENCE 700 1- Ptok Martin Department of Phoniatrics and Pedaudiology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany aut NATIONALLICENCE 773 0- Oral and Maxillofacial Surgery Springer-Verlag 15/2(2011-06-01), 103-106 1865-1550 15:2<103 2011 15 10006 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer