Pierre-Robinov komplex asociovaný s mnohopočetnými vrodenými malformáciami

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

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