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. OBSERVATIONS: 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. DISCUSSION: 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. CONCLUSION: In order to give a name to such paradoxical cases, we propose the term 'inverse Klippel-Trenaunay syndrome'. Copyright 2007 S. Karger AG, Basel.
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. OBSERVATIONS: 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. DISCUSSION: 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. CONCLUSION: In order to give a name to such paradoxical cases, we propose the term 'inverse Klippel-Trenaunay syndrome'. Copyright 2007 S. Karger AG, Basel.
Authors: Aggeliki Dimopoulos; Robert J Sicko; Denise M Kay; Shannon L Rigler; Ruzong Fan; Paul A Romitti; Marilyn L Browne; Charlotte M Druschel; Michele Caggana; Lawrence C Brody; James L Mills Journal: Am J Med Genet A Date: 2016-11-30 Impact factor: 2.802