[Mother and son with enlarged parietal foramina, persistent fetal vein, and ALX4 mutation].

Abstract

Enlarged parietal foramina (EPF) are rare congenital skull defects. These round or oval defects are situated on each parietal bone approximately 1 cm from the midline. Most patients with EPF have a positive family history. The condition is inherited as an autosomal dominant trait with relatively high, but not full, penetrance. Mutation in either MSX2 or ALX4 genes is associated with enlarged parietal foramina. Case 1 is a boy who was noticed to have a large anterior fontanelle, large posterior fontanelle, and widely opened sagittal suture at 2 months. During development, the anterior fontanelle and sagittal suture closed at 3 years and the posterior fontanelle subsequently divided into two foramina with ossification of the midline bridge by 4 years. The foramina were about 2.5 x 2.5 cm in diameter at 8 years. Case 2 is the 34-year-old mother of Case 1. She showed similar bone defects in her cranium, again about 2.5 x 2.5 cm in diameter. Neither patient showed any neurological symptoms. Genetic analysis revealed a mutation in the ALX4 gene in both patients, and magnetic resonance imaging showed a persistent falcine sinus and a hypoplastic straight sinus. Further evaluation revealed that the mother of Case 2 also had a mutation in the ALX4 gene, but no enlarged parietal foramina. Although high penetrance of this condition has been reported, this family suggests incomplete penetrance of this disorder.