Genitopatellar syndrome, sensorineural hearing loss, and cleft palate.
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.
Bergmann
Corinna
C
Department of Phoniatrics and Pedaudiology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany. bergmann.corinna@mh-hannover.de
Spranger
Susanne
S
Javaher
Poupak
P
Ptok
Martin
M
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