Phenotypic progression of skeletal anomalies in CLOVES syndrome

作者：Klein Steven; Stroberg Albert; Ghahremani Shahnaz; Martinez Agosto Julian A^*

来源：American Journal of Medical Genetics, Part A, 2012, 158A(7): 1690-1695.

DOI：10.1002/ajmg.a.35383

• CLOVES Syndrome
• Klippel-Trenaunay syndrome
• skeletal
• overgrowth

Overgrowth syndromes, defined as genetic disorders in which there is disproportionate somatic growth, are challenging to diagnose due to their heterogeneous presentations and possible differing genetic etiologies. CLOVES syndrome is characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal abnormalities (Scoliosis). We describe a developmental follow up of the skeletal changes in CLOVES syndrome and a detailed account of its management. We demonstrate the asymmetric growth rate of toes responsible for the macrodactyly observed, and present additional phenotypic findings, including postnatal onset of abdominal symmetry and hepatomegaly. While the etiology of CLOVES is still a mystery, its similarity to KlippelTrenaunay syndrome suggests a shared defect in a common signaling pathway, and its asymmetric bone overgrowth supports a mosaic genetic defect as its etiology.

• 出版日期2012-7