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: Ida V D Schwartz, Têmis M Felix, Mariluce Riegel, Lavínia Schüler-Faccini
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 11 Issue 3 Pg. 199-202 (Jul 2002) ISSN: 0962-8827 [Print] England
• PMID: 12072801 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Abnormalities, Multiple (pathology)
• Child, Preschool
• Eye Neoplasms (pathology)
• Humans
• Male
• Retinoblastoma (pathology)
• Telangiectasis (pathology)