Premium
Phenotypic progression of skeletal anomalies in CLOVES syndrome
Author(s) -
Klein Steven,
Stroberg Albert,
Ghahremani Shahnaz,
MartinezAgosto Julian A.
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35383
Subject(s) - etiology , phenotype , scoliosis , genetic syndromes , genetic heterogeneity , biology , pathology , genetics , medicine , pediatrics , gene
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.