Joshi Priya Shirish, Deshmukh Vijay, Golgire Someshwar
Department of Oral Pathology and Microbiology, Vasantdada Patil Dental College and Hospital, Kavalapur, Sangli, India.
Dent Res J (Isfahan). 2012 Jan;9(1):100-6. doi: 10.4103/1735-3327.92963.
Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene). Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by deoxyribo nucleic acid analysis. We report a case of a 9-year-old girl presenting with three major and one minor feature of Gorlin-Goltz syndrome. Radiologic findings of the syndrome are easily identifiable on Orthopantomogram, chest X-ray, and Computed tomography scans. These investigations prompt an early verification of the disease, which is very important to prevent recurrence and better survival rates from the coexistent diseases.
戈林-戈尔茨综合征是一种罕见的常染色体显性遗传性疾病，其特征为多发牙源性角化囊肿和基底细胞癌、骨骼、牙齿、眼科和神经方面的异常、大脑镰颅内异位钙化以及面部畸形。该综合征的发病机制归因于9号染色体长臂（q22.3-q31）的异常以及人类patched基因（PTCH1基因）的缺失或突变。诊断基于既定的主要和次要临床及放射学标准，理想情况下通过脱氧核糖核酸分析得以证实。我们报告了一例9岁女孩，其表现出戈林-戈尔茨综合征的三个主要特征和一个次要特征。该综合征的放射学表现通过全景曲面断层片、胸部X线和计算机断层扫描很容易识别。这些检查有助于早期确诊该疾病，这对于预防复发以及提高并存疾病的生存率非常重要。
