巨大颅骨溶骨症、皮肤改变、生长迟缓及发育迟缓：伴全身表现的戈勒姆综合征？
Massive cranial osteolysis, skin changes, growth retardation and developmental delay: Gorham syndrome with systemic manifestations?
机构信息
Department of Pediatrics, Kasturba Medical College, Manipal, Karnataka, India.
出版信息
Am J Med Genet A. 2010 Mar;152A(3):759-63. doi: 10.1002/ajmg.a.33309.
PMID:20186788
Abstract
We report on a 16-month-old girl with multiple swellings on her skull due to massive osteolysis, growth retardation, facial anomalies, and wrinkly skin with mosaic hypopigmentation. She also had severe hypercalcemia, which gradually returned to normal levels. The condition likely represents Gorham syndrome with systemic manifestations.
摘要
我们报告了一例 16 个月大的女孩，其颅骨多处肿胀，原因是广泛的骨质溶解、生长迟缓、面部畸形和伴有镶嵌性色素减退的皱缩皮肤。她还伴有严重的高钙血症，血钙水平逐渐恢复正常。该病症可能代表伴有全身表现的 Gorham 综合征。
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