Shimojima K, Adachi M, Tanaka M, Tanaka Y, Kurosawa K, Yamamoto T
International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, Shinjuku-ward, Tokyo, Japan.
Clin Genet. 2009 Apr;75(4):384-93. doi: 10.1111/j.1399-0004.2008.01141.x.
Congenital anomaly syndromes manifesting overgrowth are rare, and only a small number of recognized or defined conditions are known to be associated with overgrowth. Some of them are related to genomic imprinting as a genetic cause. We report a girl who showed pre- and postnatal overgrowth who was found to have a 2.3-Mb deletion of 9q22.32 involving PTCH1, the gene responsible for Gorlin syndrome (nevoid basal cell carcinoma syndrome), by array-comparative genomic hybridization analysis. Clinical re-evaluation according to the diagnostic criteria was performed after identification of the PTCH1 deletion, and the patient was then diagnosed as having Gorlin syndrome. Further delineation involved unusual features including cerebellar dysplasia, an ectopic meninx on her shoulder, and an intraorbital hemangioma. Overgrowth is not a common finding in Gorlin syndrome. We reviewed 23 patients reported to have a 9q22 deletion. Five patients, including our patient, had overgrowth and loss of the paternal allele.
表现为过度生长的先天性异常综合征很罕见，已知只有少数已确认或明确的病症与过度生长有关。其中一些与作为遗传原因的基因组印记有关。我们报告了一名在产前和产后均表现为过度生长的女孩，通过阵列比较基因组杂交分析发现其9q22.32存在2.3 Mb的缺失，涉及PTCH1基因，该基因是戈林综合征（痣样基底细胞癌综合征）的致病基因。在确定PTCH1缺失后，根据诊断标准进行了临床重新评估，随后该患者被诊断为患有戈林综合征。进一步的描述包括一些不寻常的特征，如小脑发育不全、肩部异位脑脊膜和眶内血管瘤。过度生长在戈林综合征中并不常见。我们回顾了23例报告有9q22缺失的患者。包括我们的患者在内，有5例患者出现过度生长且父本等位基因缺失。
