title: Genitopatellar syndrome: a case report of a rare entity with 11 years of follow-up.
abstract: Genitopatellar syndrome is one of the syndromes described in the last decade. It is characterized by agenesis of the corpus callosum, absent or hypoplastic patellae, extremity contractures, skeletal anomalies, urogenital anomalies, and facial dysmorphic features. While writing this report, only 15 cases have been reported in the literature. The etiology, clinical features, management, and natural history of this syndrome are not yet well established. Past reports in the literature have not been able to identify the exact genetic etiology but it somewhat coincides with nail patella syndrome and short patella syndrome. We would like to introduce this terminology to the orthopedic community and highlight the clinical features of the genitopatellar syndrome. To the best of our knowledge, this is a single case report with the longest follow-up of 11 years in the literature.
authors.affiliation: Duchess of Kent Children's Hospital, Pokfulam, Hong Kong.
authors.forename: Michael
authors.initials: M
authors.lastname: To
authors.forename: Rajiv
authors.initials: R
authors.lastname: Negandhi
authors.forename: Kenneth
authors.initials: K
authors.lastname: Cheung
authors.forename: Wai Yuen
authors.initials: WY
authors.lastname: Cheung
authors.forename: Wang
authors.initials: W
authors.lastname: Chow
mesh_terms: D000293:Adolescent; D061085:Agenesis of Corpus Callosum / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000150:complications / Q000000981:diagnostic imaging*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000000981:diagnostic imaging*; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008297:Male; D010329:Patella / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011596:Psychomotor Disorders / Q000150:complications / Q000000981:diagnostic imaging*; D011859:Radiography; D012600:Scoliosis / Q000150:complications / Q000000981:diagnostic imaging; D012611:Scrotum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014564:Urogenital Abnormalities / Q000150:complications / Q000000981:diagnostic imaging*