title: Atypical macrocephaly-cutis marmorata telangiectatica congenita with retinoblastoma.
abstract: We describe a boy presenting with macrosomy, body asymmetry, cutis marmorata and tall stature who developed a retinoblastoma. Although he does not have macrocephaly, his clinical picture is compatible with the diagnosis of Macrocephaly-cutis marmorata telangiectatica congenita syndrome (M-CMTC). Interestingly, retinoblastoma is not generally associated with overgrowth syndromes, and its occurrence in this patient suggests that M-CMTC is also a tumour-prone syndrome.
authors.affiliation: Clinical Hospital of Porto Alegre, Medical Genetics Service, Porto Alegre, Brazil.
authors.forename: Ida V D
authors.initials: IV
authors.lastname: Schwartz
authors.forename: Têmis M
authors.initials: TM
authors.lastname: Felix
authors.forename: Mariluce
authors.initials: M
authors.lastname: Riegel
authors.forename: Lavínia
authors.initials: L
authors.lastname: Schüler-Faccini
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002675:Child, Preschool; D005134:Eye Neoplasms / Q000473:pathology*; D006801:Humans; D008297:Male; D012175:Retinoblastoma / Q000473:pathology*; D013684:Telangiectasis / Q000473:pathology*