A case of the new overgrowth syndrome--macrocephaly with cutis marmorata, haemangioma and syndactyly.
Moore et al. [(1997) J Med Genet 70:67-73] and Clayton-Smith et al. [(1997) Clin Dysmorphol 6:291-302] have recently described a new overgrowth syndrome with macrocephaly, cutis marmorata, haemangiomas and digit syndactyly. Other features have included body asymmetry, hydrocephalus requiring shunting and developmental delay. All 22 cases reported are sporadic. We report a further case of this rare syndrome.
Baralle
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Department of Medical Genetics, Addenbrookes Hospital, Cambridge, UK. dbaralle@hgmp.mrc.ac.uk
Firth
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D000015:Abnormalities, Multiple / Q000473:pathology*; D005260:Female; D006257:Head / Q000002:abnormalities*; D006801:Humans; D012868:Skin Abnormalities / Q000473:pathology*; D013576:Syndactyly / Q000473:pathology*; D013577:Syndrome