Table 2.

Allelic Disorders with Enlarged Parietal Foramina to Consider in the Differential Diagnosis

GeneDisorderMOIMajor Clinical Features
ALX4 ALX4-related
frontonasal
dysplasia 1
(OMIM 613451)		AR
  • Median facial malformations of the frontonasal dysplasia type w/enlarged parietal foramina
  • Craniosynostosis, alopecia, cryptorchidism, brain abnormalities, & intellectual disability
MSX2 Parietal foramina
w/cleidocranial
dysplasia 2
(OMIM 168550)		AD
  • Parietal foramina
  • Hypoplastic clavicles
1.

Reported mostly in consanguineous families with probands who are autozygous for nonsense or missense pathogenic variants [Kayserili et al 2009, Kayserili et al 2012, El-Ruby et al 2018]

2.

Associated with an MSX2 pathogenic variant in a single family [Garcia-Miñaur et al 2003]

From: Enlarged Parietal Foramina

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