Abstract
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.
Original language | Dutch |
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Pages (from-to) | 164-169 |
Journal | Tijdschrift voor Kindergeneeskunde |
Volume | 70 |
Issue number | 4 |
Publication status | Published - 2002 |
Externally published | Yes |