By Gary M. White, MD
Congenital lipomatous overgrowth, vascular malformations, epidermal nevi and spinal/skeletal anomalies syndrome (CLOVES) is a severe overgrowth disorder of PIK3CA.
A 15 day old Caucasian girl was the first child of nonconsanguinous and otherwise healthy and young parents. She had downslanting palpebral fissures, flattening of the malar bones, relative lengthening of the face, and a persistently open mouth. There was an asymmetry of the face, with the left facial area being enlarged. Ptosis, horizontal nystagmus, and bilateral cataracts were also noted. She had massive overgrowth of the left lateral truncal region with overlying vascular malformations, including fragile, superficial vascular blebs. Moderate to severe macrodactyly of the feet was present. Cranial CT showed left-sided hemimegalencephaly (predominantly white matter) and partial agenesis of corpus callosum. Thoracic CT showed large cystic structures, consistent with lymphatic vascular malformations. Chronic, generalized convulsions developed and were treated with anticonvulsants. Am J Med Genet A. 2008 Oct 15; 146A(20): 2688–2690.
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