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Massive cranial osteolysis, skin changes, growth retardation and developmental delay: Gorham syndrome with systemic manifestations?
Author(s) -
Girisha K.M.,
Ganesh H.K.,
Rao Lakshmi,
Srilatha P.S.
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33309
Subject(s) - medicine , hypopigmentation , osteolysis , skull , growth retardation , dermatology , anatomy , surgery , biology , genetics , pregnancy
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. © 2010 Wiley‐Liss, Inc.