IMAGe sendromu
Intrauterine growth restriction, Metaphyseal dysplasia, Adrenal hypoplasia congenita, Genital anomalies
Kalıtsal - AD
Gelişme geriliği
Makrosefali
Frontal kemik çıkıntılı
Basık burun kemeri
Yüz üçgen biçiminde
Mikrognati
Retrognati
Yarık damak
Uvula bifida
Mikroglossi
Metafiz ve epifiz displazileri
Adrenal hipoplazisi ve yetmezliği
Hiperkalsemi
Hiperkalsüri
Genital anomaliler
Hipotoni
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Tan TY, Jameson JL, Campbell PE, Ekert PG, Zacharin M, Savarirayan R. Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review. American Journal of Medical Genetics A, 140:1778–1784, 2006
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Coman DJ, White SM, Amor DJ. Two siblings with 46,XY DSD, congenital adrenal hypoplasia, anİridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome? American Journal of Medical Genetics A, 143A:2085–2088, 2007
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Balasubramanian M, Sprigg A, Johnson DS. IMAGe syndrome: Case report with a previously unreported feature and review of published literature. American Journal of Medical Genetics A, 152A:3138–3142, 2010
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Kato F, Hamajima T, Hasegawa T, et al. IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients. Clinical Endocrinology (Oxford), 80:706–713, 2014