Atypical macrocephaly-cutis marmorata telangiectatica congenita with retinoblastoma

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). Int...

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Veröffentlicht in:Clinical dysmorphology 2002-07, Vol.11 (3), p.199-202
Hauptverfasser: Schwartz, Ida V D, Felix, Têmis M, Riegel, Mariluce, Schüler-Faccini, Lavínia
Format: Artikel
Sprache:eng
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Abnormalities, Multiple - pathology
Child, Preschool
Eye Neoplasms - pathology
Humans
Male
Retinoblastoma - pathology
Telangiectasis - pathology
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container_end_page 202
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container_title Clinical dysmorphology
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creator Schwartz, Ida V D
Felix, Têmis M
Riegel, Mariluce
Schüler-Faccini, Lavínia
description 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.
doi_str_mv 10.1097/00019605-200207000-00010
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subjects Abnormalities, Multiple - pathology
Child, Preschool
Eye Neoplasms - pathology
Humans
Male
Retinoblastoma - pathology
Telangiectasis - pathology
title Atypical macrocephaly-cutis marmorata telangiectatica congenita with retinoblastoma
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