title: Genitopatellar syndrome, sensorineural hearing loss, and cleft palate.
abstract: BACKGROUND
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Phoniatrics and Pedaudiology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany. bergmann.corinna@mh-hannover.de
authors.forename: Corinna
authors.initials: C
authors.lastname: Bergmann
authors.forename: Susanne
authors.initials: S
authors.lastname: Spranger
authors.forename: Poupak
authors.initials: P
authors.lastname: Javaher
authors.forename: Martin
authors.initials: M
authors.lastname: Ptok
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002972:Cleft Palate / Q000175:diagnosis* / Q000235:genetics; D003409:Congenital Hypothyroidism / Q000175:diagnosis / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis* / Q000235:genetics; D010329:Patella / Q000002:abnormalities; D013577:Syndrome; D014564:Urogenital Abnormalities / Q000175:diagnosis* / Q000235:genetics