Massive Cranial Osteolysis, Skin Changes, Growth Retardation and Developmental Delay: Gorham Syndrome With Systemic Manifestations?

被引：7

作者：

Girisha, K. M. ^{[1
]}

Ganesh, H. K. ^{[2
]}

Rao, Lakshmi ^{[3
]}

Srilatha, P. S. ^{[4
]}

机构：

[1] Manipal Univ, Genet Clin, Dept Pediat, Kasturba Med Coll, Manipal 576104, Karnataka, India

[2] AJ Hosp & Res Ctr, Dept Endocrinol, Mangalore, Karnataka, India

[3] Kasturba Med Coll & Hosp, Dept Pathol, Manipal, Karnataka, India

[4] Melaka Manipal Med Coll, Dept Pathol, Manipal, Karnataka, India

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2010年 / 152A卷 / 03期

关键词：

osteolysis; hypercalcemia; skull; mandible; gorham syndrome; skin pigment; SKULL; DISEASE; BONES;

D O I：

10.1002/ajmg.a.33309

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2010 Wiley-Liss, Inc.

引用

页码：759 / 763

页数：5