| H00475 | |
| H number | H00475 |
| Name | Enlarged parietal foramina/cranium bifidum |
| Description | Enlarged parietal foramina/cranium bifidum is characterised by oval defects in the parietal bones. It results from incomplete ossification of the parietal bones during development and is caused by ALX4 or MSX2 gene mutations. |
| Category | Congenital malformation |
| Network | - |
| Gene | (parietal foramina 1, parietal foramina with cleidocranial dysplasia) MSX2 [HSA:4488] [KO:K09341] (parietal foramina 2) ALX4 [HSA:60529] [KO:K09451] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LB70.Y ICD-10: Q75.8 MeSH: C566826 OMIM: 168500 609597 168550 |
| Reference | PMID:20301307 AUTHORS Wilkie AOM, Mavrogiannis LA TITLE Enlarged Parietal Foramina/Cranium Bifidum JOURNAL GeneReviews (1993) PMID:11106354 AUTHORS Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, Van Hul W TITLE The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). JOURNAL J Med Genet 37:916-20 (2000) DOI:10.1136/jmg.37.12.916 PMID:20306736 AUTHORS Bello TO, Bajomo AA, Adeniyi TO TITLE Foramina parietalia permagna in a Nigerian family. JOURNAL West Afr J Med 28:182-4 (2009) DOI:10.4314/wajm.v28i3.48433 |