Cutis marmorata telangiectatica with Multiple Congenital Anomalies (van Lohuizen’s Syndrome)

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Abstract
A 5-year-old Korean boy with diagnosis of cutis marmorata telangiectatica congenita had a bluish-red, widespread livedo network over the entire body surface. There was skin atrophy as well as ulceration and crust over some of the lesions. These abnormalities have been associated with mental retardation with abnormal EEG findings, speech disability, defective growth, cleft palate, presence of simian lines and an increase in the atd angles of both palms, diffuse demineralization of bony structure and weakness of the long extensor muscles of both thumbs. Based on our clinical datas and review of world literature, it would seem to be necessary to change the terminology.

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