Inverse Klippel-Trenaunay syndrome: review of cases showing deficient growth.
BACKGROUND
Klippel-Trenaunay syndrome is defined by a coexistence of nevus flammeus and overgrowth of one or more limbs. Remarkably, however, deficient growth of an affected limb may likewise be noted.


METHODS
We collected from the literature a number of cases of Klippel-Trenaunay syndrome associated with deficient growth such as shortening or hypoplastic muscle mass of the affected extremity.


CONCLUSIONS
The cause of the unusual deficient growth is unknown. Some patients may be compound heterozygotes carrying a 'plus' and a 'minus' allele at the responsible gene locus, and postzygotic recombination would give rise to two different cell clones homozygous for either allele.


CONCLUSIONS
In order to give a name to such paradoxical cases, we propose the term 'inverse Klippel-Trenaunay syndrome'.
Danarti
Retno
R
Department of Dermatology, Philipp University of Marburg, Marburg, Germany.
König
Arne
A
Bittar
Mario
M
Happle
Rudolf
R
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006130:Growth Disorders / Q000150:complications* / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007715:Klippel-Trenaunay-Weber Syndrome / Q000150:complications* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000150:complications / Q000235:genetics; D013577:Syndrome; D009626:Terminology as Topic