1.
BMJ Case Rep
; 20092009.
Article
in English
| MEDLINE
| ID: mdl-21686566
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.