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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

 

• 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

• 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

• Brugha R, Kınalı M, Aminu K, et al. Genitopatellar syndrome: a further case. Clinical Dysmorphology, 20: 163-165, 2011

• Bergmann C, Spranger S, Javaher P, Ptok M. Genitopatellar syndrome, sensorineural hearing loss, and cleft palate. Oral & Maxillofacial Surgery, 15: 103-106, 2011

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