Genitopatellar sendrom
Kalıtsal - AD
Mikrosefali
Saçlı deri kılları seyrek
Kaba yüz yapısı
Çekik gözler
İri-belirgin burun
İşitme sorunları
Yarık damak
Dişlerde sürme aksamaları
Kalpte septum defektleri
Laringomalasi
Anüs malpozisyonu (önde)
Genital organ anomalileri
Kistik böbrekler
Hidronefroz
Kalça eklemi anomalileri
Patella agenezi
Parmak anomalileri
Corpus callosum agenezi
Psikomotor gerilik
Hipotoni
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Cormier-Daire V, Chauvet M-L, Lyonnet S, et al. Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. Journal of Medical Genetics, 37: 520-524, 2000
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Penttinen M, Koillinen H, Niinikoski H, et al. Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities. American Journal of Medical Genetics, 149A: 451-455, 2009
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Brugha R, Kınalı M, Aminu K, et al. Genitopatellar syndrome: a further case. Clinical Dysmorphology, 20: 163-165, 2011
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Bergmann C, Spranger S, Javaher P, Ptok M. Genitopatellar syndrome, sensorineural hearing loss, and cleft palate. Oral & Maxillofacial Surgery, 15: 103-106, 2011