Goldenhar sendromu

Goldenhar sendromu (hemifacial microsomia), Craniofacial microsomia sendromu'nun otosomal dominant yolla aktarılan kalıtsal nitelikteki fenotipidir (ayrıntılı bulgular bu bölümde verilmiştir). Otosomal dominant yolla aktarılan en önemli kalıtsal örnektir.^[1]^[2]^[3]^[4]

Yüzün bir yarısının gelişememiş olması nedeniyle belirgin bir asimetri saptanır (hemifacial microsomia). Bu bölgedeki yüz kasları, yanaklar ve çene kemikleri de yeterince gelişememiştir. Kulaklarda, gözlerde ve ağızda kraniyofasiyal mikrosomi olgularındaki bulgular saptanır. Boyun dokularında farengeal arkların artıkları vardır. Kalpte Fallot tetralojisi, ventrikül septum defektleri ve aorta koarktasyonu saptanır. Akciğerlerden biri hipoplaziktir. Böbreklerden biri eksik olabilir. Vertebra anomalileri saptanır. Beyinde Arnold-Chiari malformasyonu, oksipital ensefalosel, corpus callosum ve septum pellucidum gelişmesinde yetersizlik ve hidrosefali vardır. Zeka geriliği olabilir.^[5]^[6]^[7]^[8]^[9]

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Kaynakça

^ Kosaki R, Fujimaru R, Samejima H, et al. Wide phenotypic variations within a family with SALL1 mutations: isolated external ear abnormalities to Goldenhar syndrome. American Journal of Medical Genetics, 143A: 1087-1090, 2007
^ Birgfeld CB, Heike C. Craniofacial microsomia. Seminars in Plastic Surgery, 26:91–104, 2012
^ Johnson JM, Moonis G, Green GE, et al. Syndromes of the first and second branchial arches, part 2: Syndromes. AJNR American Journal of Neuroradiology, 32(2):230-237, 2011
^ Tasse C, Majewski F, Böhringer S, et al. A family with autosomal dominant oculo-auriculo-vertebral spectrum. Clinical Dysmorphology, 16:1–7, 2007
^ Johnson JM, Moonis G, Green GE, et al. Syndromes of the first and second branchial arches, part 1: Embryology and characteristic defects. AJNR American Journal of Neuroradiology, 32(1):14-19, 2011
^ Bennun RD, Mulliken JB, Kaban LB, Murray JE. Microtia: a microform of hemifacial microsomia. Plastic & Reconstructive Surgery, 76:859–865, 1985
^ Verloes A. Hypertelorism-microtia-clefting (HMC) syndrome. Genetic Counseling, 5:283-287, 1994
^ Gougoutas AJ, Singh DJ, Low DW, Bartlett SP. Hemifacial microsomia: clinical features and pictographic representations of the OMENS classification system. Plastic & Reconstrictive Surgery, 120:112e–120e, 2007
^ Hartsfield JK. Review of the etiologic heterogeneity of the oculo-auriculo-vertebral spectrum (Hemifacial Microsomia). Orthodontics & Craniofacial Research, 10(3):121-128, 2007

[1] Kosaki R, Fujimaru R, Samejima H, et al. Wide phenotypic variations within a family with SALL1 mutations: isolated external ear abnormalities to Goldenhar syndrome. American Journal of Medical Genetics, 143A: 1087-1090, 2007

[2] Birgfeld CB, Heike C. Craniofacial microsomia. Seminars in Plastic Surgery, 26:91–104, 2012

[3] Johnson JM, Moonis G, Green GE, et al. Syndromes of the first and second branchial arches, part 2: Syndromes. AJNR American Journal of Neuroradiology, 32(2):230-237, 2011

[4] Tasse C, Majewski F, Böhringer S, et al. A family with autosomal dominant oculo-auriculo-vertebral spectrum. Clinical Dysmorphology, 16:1–7, 2007

[5] Johnson JM, Moonis G, Green GE, et al. Syndromes of the first and second branchial arches, part 1: Embryology and characteristic defects. AJNR American Journal of Neuroradiology, 32(1):14-19, 2011

[6] Bennun RD, Mulliken JB, Kaban LB, Murray JE. Microtia: a microform of hemifacial microsomia. Plastic & Reconstructive Surgery, 76:859–865, 1985

[7] Verloes A. Hypertelorism-microtia-clefting (HMC) syndrome. Genetic Counseling, 5:283-287, 1994

[8] Gougoutas AJ, Singh DJ, Low DW, Bartlett SP. Hemifacial microsomia: clinical features and pictographic representations of the OMENS classification system. Plastic & Reconstrictive Surgery, 120:112e–120e, 2007

[9] Hartsfield JK. Review of the etiologic heterogeneity of the oculo-auriculo-vertebral spectrum (Hemifacial Microsomia). Orthodontics & Craniofacial Research, 10(3):121-128, 2007

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