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A Neonate with CLOVES Syndrome.

作者信息

Sarici Dilek, Akin Mustafa Ali, Kurtoglu Selim, Tubas Filiz, Sarici Serdar Umit

机构信息

Division of Neonatology, Department of Pediatrics, Erciyes University Faculty of Medicine, 38039 Kayseri, Turkey.

Department of Pediatrics, Erciyes University Faculty of Medicine, 38039 Kayseri, Turkey.

出版信息

Case Rep Pediatr. 2014;2014:845074. doi: 10.1155/2014/845074. Epub 2014 Oct 22.

Abstract

Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently delineated disorder that comprises vascular malformations (typically truncal), dysregulated adipose tissue, scoliosis, enlarged bony structures (typically of the legs) without progression, or distorting bony overgrowth. The name CLOVE was subsequently extended to CLOVES to emphasize the association with scoliosis/skeletal and spinal anomalies and seizures/central nervous system malformations. We herein report a very rare case of CLOVES syndrome with the findings of lipomatous overgrowth in the cheek (facial asymmetry), vascular malformation (hemangiomas), epidermal nevi (large port wine stains), and skeletal abnormalities (widened first interdigital space, dystrophia in the nail of the first digit of the right foot, and bilateral hypertrophy of the first digits of the feet).

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe0f/4221976/cbdbcd0cf326/CRIPE2014-845074.001.jpg

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Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.
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2
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CLOVE(S) syndrome: expanding the acronym.
Am J Med Genet A. 2009 Feb;149A(2):294; author reply 295. doi: 10.1002/ajmg.a.32632.

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