Goltz syndrome: report of two severe cases.
作者信息
Scott Riddell W, Pivnick Eniko K, Dowell Stacy H, Eubanks James W, Huang Eunice Y, Van den Veyver Ignatia B, Wang Xiaoling
机构信息
The Dermatology Group, 5210 Poplar Avenue, Memphis, Tennessee, 38119, USA.
出版信息
BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.09.2008.0909. Epub 2009 Mar 17.
Abstract
Goltz syndrome is a rare, X-linked dominant congenital disorder with abnormalities in derivatives of each of the three embryonic germ layers. Its clinical phenotype varies widely, ranging from isolated skin defects to absence of limbs and/or organs. The rarity and wide range of presentation contribute to delayed or missed diagnosis.
摘要
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