Gorlin-Cohen sendromu
Frontometaphyseal dysplasia
Kalıtsal (fenotip 1: XLR, fenotip 2: AD)
Foramen magnum geniş
Kafatası eklemlerinde erken kapanma
Supraorbital ve frontal hiperostozis
Hipertelorizm
Aşağı çekik göz kapak bileşkeleri
İşitme sorunları
Alt dudak çıkıntılı
Altçene hipoplazisi
Yarık damak
Oligodonti
Süt dişleri persistansı
Gömük sürekli dişler
Maloklüzyon
Mitral kapak prolapsusu
Cor pulmonale
Bileklerde, dizlerde ve dirseklerde hareket kısıtlanması
Skolyoz
Uzun kemiklerde deformasyonlar
Araknodaktili
Distal falankslarda hipoplazi
Ellerde progressif kontraktürler
Kaslarda gelişme geriliği
Üriner sistem anomalileri
Zeka geriliği
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Gorlin RJ, Cohen MM. Frontometaphyseal dysplasia. A new syndrome. American Journal of Diseases of Children, 118:487–494, 1969
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Superti-Furga A, Gimelli F. Fronto-metaphyseal dysplasia and the oto-palato-digital syndrome. Dysmorphic Clinical Genetics, 1:2–5, 1987
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Vinay S, Andreas R, Bernhard ZE, Gerhardt S. Foot deformity in frontometaphyseal dysplasia (Gorlin-Cohen syndrome): a case report. Journal of Foot & Ankle Surgery, 39(2):131-135, 2000
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Verloes A, Lesenfants S, Barr M, et al. Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. American Journal of Medical Genetics, 90:407–422, 2000
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Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the Head & Neck, Oxford University Press, New York, 2001
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Morava E, Illés T, Weisenbach J, et al. Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. American Journal of Medical Genetics A, 116A:272–277, 2003
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Robertson SP. Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. European Journal of Human Genetics, 15(1):3-9, 2007