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

Meow Keong Thong, Elizabeth Thompson, Ross Keenan, Karen Simmer, Michael Harbord, Geoffrey Davidson, Eric Haan

Research output: Contribution to journalArticle

27 Citations (Scopus)

Abstract

Although the clinical delineation of the majority of overgrowth syndromes is straightforward, we believe there is a subset of patients with overlapping features from a number of overgrowth syndromes. We report a patient with hemimegalencephaly, hemihypertrophy, macrocephaly, vascular lesions, psychomotor retardation and intestinal lymphangiectasia. The clinical history and findings posed a diagnostic dilemma as the features overlapped between several conditions, namely macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC), Klippel-Trenaunay-Weber syndrome (KTWS), Proteus syndrome and 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 delineated will it become clear whether these disorders are separate entities or merely differing ends of the same spectrum.

Original languageEnglish
Pages (from-to)283-286
Number of pages4
JournalClinical Dysmorphology
Volume8
Issue number4
Publication statusPublished - Oct 1999
Externally publishedYes

Keywords

  • Clinical heterogeneity
  • Cutis marmorata
  • Macrocephaly
  • Overgrowth syndrome

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