Case Report: 2-Year-old With Wilms Tumors, Familial Heterozygous DIS3L2 Mutation, and Cutis Marmorata Telangiectatica Congenita
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000002498
Abstract: Biallelic variants in DI3SL2 cause Perlman Syndrome, associated increased risk for Wilms tumor. Cutis Marmorata Telangiectatica Congenita (CMTC) is a rare congenital disorder characterized by cutaneous vascular anomalies. We report a 2-year-old boy with both… read more here.
Keywords: wilms tumor; marmorata telangiectatica; report year; cutis marmorata ... See more keywords
P589 Cutis marmorata telangiectatica congenita
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2019-epa.923
Abstract: Background Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital cutaneous vascular anomaly. About 300 cases were reported in the littérature. It is associated persistent cutis marmorata, telangiectasia, and phlebectasia. Case report We report a… read more here.
Keywords: cutis; telangiectatica congenita; cutis marmorata; marmorata telangiectatica ... See more keywords
Cutis Marmorata Telangiectatica Congenita Presenting as a Fetal Hemothorax
Sign Up to like & getrecommendations! Published in 2018 at "Fetal Diagnosis and Therapy"
DOI: 10.1159/000488487
Abstract: We report a case of a fetus diagnosed at 28 weeks’ gestation with a spontaneous prenatal hemothorax. Fetal intervention consisted of 2 thoracenteses with analysis of the pleural effusion. The pregnancy was further complicated by… read more here.
Keywords: telangiectatica congenita; marmorata telangiectatica; presenting fetal; cutis marmorata ... See more keywords