A child with hemimegalencephaly, hemihypertrophy, macrocephaly, cutaneous vascular malformation, psychomotor retardation and intestinal lymphangiectasia - a diagnostic dilemma

Although the clinical delineation of the majority of overgrowth syndromes i s straightforward, we believe there is a subset of patients with overlappin g features fi om a number of overgrowth syndromes. We report a patient with hemimegalencephaly, hemihypertrophy; macrocephaly; vascular lesions, psych omotor retardation and intestinal lymphangiectasia. The clinical history an d findings posed a diagnostic dilemma as the features overlapped between se veral conditions, namely macrocephaly-cutis marmorata telangiectatica conge nita (M-CMTC), Klippel-Trenaunay-Weber syndrome (KTWS), Proteus syndrome an d a provisional unique syndrome described by Reardon et al. (1996, Am J Med Genet 66:144-149). We anticipate that only when the molecular basis is del ineated will it become clear whether these disorders are separate entities or merely differing ends of the same spectrum. Clin Dysmorphol 8: 283-286 ( C) 1999 Lippincott Williams & Wilkins.