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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

 

• 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

• 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

• 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

• 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

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