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 adolescentsArticle was published in
Czech-Slovak Pediatrics
2007 Issue 12
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