How to Cite this Article: Klein S, Stroberg A, Ghahremani S, Martinez-Agosto JA. 2012. Phenotypic progression of skeletal anomalies in cloves syndrome. Am J Med Genet Part A. 158A:1690–1695.
Phenotypic progression of skeletal anomalies in CLOVES syndrome†
Article first published online: 24 MAY 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 7, pages 1690–1695, July 2012
How to Cite
Klein, S., Stroberg, A., Ghahremani, S. and Martinez-Agosto, J. A. (2012), Phenotypic progression of skeletal anomalies in CLOVES syndrome. Am. J. Med. Genet., 158A: 1690–1695. doi: 10.1002/ajmg.a.35383
- Issue published online: 18 JUN 2012
- Article first published online: 24 MAY 2012
- Manuscript Accepted: 5 MAR 2012
- Manuscript Received: 29 JUL 2011
- CLOVES Syndrome;
- Klippel–Trenaunay syndrome;
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 Klippel–Trenaunay syndrome suggests a shared defect in a common signaling pathway, and its asymmetric bone overgrowth supports a mosaic genetic defect as its etiology. © 2012 Wiley Periodicals, Inc.