Gorlin-Cohen sendromu | frontometaphyseal dysplasia |

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

Gorlin RJ, Cohen MM. Frontometaphyseal dysplasia. A new syndrome. American Journal of Diseases of Children, 118:487–494, 1969
Superti-Furga A, Gimelli F. Fronto-metaphyseal dysplasia and the oto-palato-digital syndrome. Dysmorphic Clinical Genetics, 1:2–5, 1987
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
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
Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the Head & Neck, Oxford University Press, New York, 2001
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
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