Atypical macrocephaly-cutis marmorata telangiectatica congenita with retinoblastoma.
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.
Schwartz
Ida V D
IV
Clinical Hospital of Porto Alegre, Medical Genetics Service, Porto Alegre, Brazil.
Felix
Têmis M
TM
Riegel
Mariluce
M
Schüler-Faccini
Lavínia
L
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*