A patient is presented with symptoms fitting classical pentalogy of Cantrell who also has a frontonasal dysplasia. The co-occurrence of both entities in a single patient is highly unusual. We provide a detailed review of pentalogy of Cantrell. Both pentalogy of Cantrell and frontonasal dysplasia can be considered defects of the midline formation in early embryonic life. The etiology of the co-occurrence of the entities remains uncertain. Either a prolonged influence of a teratogenic agent or a mutation in a developmental gene might explain this.
|Journal||Tijdschrift voor Kindergeneeskunde|
|Publication status||Published - 2002|