In:
Klinische Pädiatrie, Georg Thieme Verlag KG, Vol. 234, No. 05 ( 2022-09), p. 311-313
Kurzfassung:
Complete tracheal ring deformity (CTRD) is a rare abnormality of unknown etiology
characterized by circumferentially continuous cartilaginous tracheal rings leading to variable degrees of tracheal stenosis with or without additional
heart and lung malformations. Pleuropulmonary blastomas (PPB) are rare malignant mesenchymal tumors, which occur almost exclusively in young children. Pathogenic
germline DICER1 variants are associated with PPB but also with other tumors like rhabdomyosarcoma or syndromic diseases like GLOW (Global
developmental delay, lung cysts, overgrowth and Wilms tumor) syndrome. Here, we report a case with CTRD and recurrent pneumothoraces who additionally developed
PPB on the genetic background of a pathogenic DICER1 variant.
Materialart:
Online-Ressource
ISSN:
0300-8630
,
1439-3824
Sprache:
Englisch
Verlag:
Georg Thieme Verlag KG
Publikationsdatum:
2022
ZDB Id:
2039110-9