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Updated: Jul 9, 2026

Establishment and Propagation of Human Retinoblastoma Tumors in Immune Deficient Mice
Published on: August 4, 2011
Atypical macrocephaly-cutis marmorata telangiectatica congenita with retinoblastoma
Ida V D Schwartz1, Têmis M Felix, Mariluce Riegel
1Clinical Hospital of Porto Alegre, Medical Genetics Service, Porto Alegre, Brazil.
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.
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