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Pierre-Robin Complex Associated with Multiple Congenital Malformations – a case report


Authors: V. Bartoš 1;  Z. Huťka 1;  M. Fedor 2;  N. Mišovicová 3;  K. Adamicová 1;  M. Adamkov 4
Authors‘ workplace: Ústav patologickej anatómie JLF UK a MFN, Martin vedúci prof. MUDr. L. Plank, CSc. 1;  Klinika detí a dorastu JLF UK a MFN, Martin vedúci prof. MUDr. P. Bánovčin, CSc. 2;  Genetická ambulancia, Mudroňova 7, Martin 3;  Ústav histológie a embryológie JLF UK, Martin vedúci doc. MUDr. K. Belej, CSc. 4
Published in: Čes-slov Pediat 2007; 62 (12): 684-688.
Category: Case Report

Overview

Pierre-Robin complex is a congenital malformation consisting of 3 essential anomalies – micrognathia, cleft palate and glossoptosis, often accompanied by airway obstruction. This nosologic entity is ethiologically very heterogeneous with a broad spectrum of phenotypic variability. A malformation can occur a) as an isolated defect, b) as a part of certain recognized syndrome or c) as part of a complex of multiple congenital malformations without well-known or strictly defined syndrome. Therefore, the first diagnostic consideration is to specify a form of Pierre-Robin complex. This distinction is very important, because in the vast majority of syndromologic forms, accompanied anomalies are prognostically much more important.

The authors of the article present a case report of a one year old child born with Pierre-Robin complex associated with multiple congenital anomalies including tetralogy of Fallot, microcephaly, backbone deformities and not otherwise specified myelopathy of spinal cord. They demonstrate a course of the disease, clinical examinations, therapy, complications and finally autopsy findings.

In discussion, they describe an ethiopathogenesis and typical clinical manifestations of this malformation and compare the information in a literature with their own observation.

Key words:
Pierre-Robin complex, tetralogy of Fallot, congenital malformations


Labels
Neonatology Paediatrics General practitioner for children and adolescents
Topics Journals
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