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Parietal foramina 1(PFM1)

MedGen UID:
401480
Concept ID:
C1868599
Congenital Abnormality
Synonyms: FORAMINA PARIETALIA PERMAGNA; PARIETAL FORAMINA, SYMMETRIC; PFM1
 
Gene (location): MSX2 (5q35.2)
 
Monarch Initiative: MONDO:0008197
OMIM®: 168500

Disease characteristics

Excerpted from the GeneReview: Enlarged Parietal Foramina
Enlarged parietal foramina are characteristic symmetric, paired radiolucencies of the parietal bones, located close to the intersection of the sagittal and lambdoid sutures, caused by deficient ossification around the parietal notch, which is normally obliterated by the fifth month of fetal development. Enlarged parietal foramina are usually asymptomatic. Meningeal, cortical, and vascular malformations of the posterior fossa occasionally accompany the bone defects and may predispose to epilepsy. In a minority of individuals, headaches, vomiting, or intense local pain are sometimes associated with the defects, especially on application of mild pressure to the unprotected cerebral cortex. [from GeneReviews]
Authors:
Lampros A Mavrogiannis  |  Andrew OM Wilkie   view full author information

Additional description

From MedlinePlus Genetics
Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull. This condition is due to incomplete bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, ranging in size from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but typically they close before the baby is born, usually by the fifth month of pregnancy. However, in people with this condition, the parietal foramina remain open throughout life.

The enlarged parietal foramina are soft to the touch due to the lack of bone at those areas of the skull. People with enlarged parietal foramina usually do not have any related health problems; however, scalp defects, seizures, and structural brain abnormalities have been noted in a small percentage of affected people. Pressure applied to the openings can lead to severe headaches, and individuals with this condition have an increased risk of brain damage or skull fractures if any trauma is experienced in the area of the openings.

There are two forms of enlarged parietal foramina, called type 1 and type 2, which differ in their genetic cause.  https://medlineplus.gov/genetics/condition/enlarged-parietal-foramina

Clinical features

From HPO
Headache
MedGen UID:
9149
Concept ID:
C0018681
Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Encephalocele
MedGen UID:
1646412
Concept ID:
C4551722
Congenital Abnormality
A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Wormian bones
MedGen UID:
766814
Concept ID:
C3553900
Congenital Abnormality
The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.
Parietal foramina
MedGen UID:
505331
Concept ID:
CN002451
Finding
The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.
Cleft upper lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Aplasia cutis congenita of scalp
MedGen UID:
343411
Concept ID:
C1855698
Congenital Abnormality
A developmental defect resulting in the congenital absence of skin on the scalp.
Blue sclerae
MedGen UID:
154236
Concept ID:
C0542514
Finding
An abnormal bluish coloration of the sclera.

Professional guidelines

PubMed

Mavrogiannis LA, Taylor IB, Davies SJ, Ramos FJ, Olivares JL, Wilkie AO
Eur J Hum Genet 2006 Feb;14(2):151-8. doi: 10.1038/sj.ejhg.5201526. PMID: 16319823Free PMC Article

Recent clinical studies

Etiology

Mueller SK, Bleier BS
Int Forum Allergy Rhinol 2018 May;8(5):655-658. Epub 2017 Dec 26 doi: 10.1002/alr.22059. PMID: 29278458
Tsutsumi S, Nonaka S, Ono H, Yasumoto Y
Surg Radiol Anat 2016 May;38(4):455-9. Epub 2015 Oct 24 doi: 10.1007/s00276-015-1579-4. PMID: 26498934
Celik SE, Kara A
J Neurosurg Pediatr 2008 Mar;1(3):258-60. doi: 10.3171/PED/2008/1/3/258. PMID: 18352774
Kortesis B, Richards T, David L, Glazier S, Argenta L
J Craniofac Surg 2003 Jul;14(4):538-44. doi: 10.1097/00001665-200307000-00028. PMID: 12867871
Kaplan SB, Kemp SS, Oh KS
Radiol Clin North Am 1991 Mar;29(2):195-218. PMID: 1998047

Diagnosis

Delplancq G, Boukebir MA, Amsallem D, Thines L, Rozé V, Dahlen E, Van Maldergem L, Kuentz P
Neuropediatrics 2022 Aug;53(4):274-278. Epub 2021 Dec 8 doi: 10.1055/s-0041-1740357. PMID: 34879425
Gabor L, Canaz H, Canaz G, Kara N, Gulec EY, Alatas I
Childs Nerv Syst 2017 May;33(5):853-857. Epub 2016 Dec 14 doi: 10.1007/s00381-016-3315-8. PMID: 27975139
Sohn YB, Yim SY, Cho EH, Kim OH
J Korean Med Sci 2015 Feb;30(2):214-7. Epub 2015 Jan 21 doi: 10.3346/jkms.2015.30.2.214. PMID: 25653495Free PMC Article
Nascimento SR, de Mello MP, Batista JC, Balarin MA, Lopes VL
Cleft Palate Craniofac J 2004 May;41(3):250-5. doi: 10.1597/02-131.1. PMID: 15151448
Kaplan SB, Kemp SS, Oh KS
Radiol Clin North Am 1991 Mar;29(2):195-218. PMID: 1998047

Therapy

Kortesis B, Richards T, David L, Glazier S, Argenta L
J Craniofac Surg 2003 Jul;14(4):538-44. doi: 10.1097/00001665-200307000-00028. PMID: 12867871
Liakos AM, Bradley NK, Magram G, Muszynski C
Neurol Res 2000 Jan;22(1):69-88. doi: 10.1080/01616412.2000.11741040. PMID: 10672583

Prognosis

Tsutsumi S, Nonaka S, Ono H, Yasumoto Y
Surg Radiol Anat 2016 May;38(4):455-9. Epub 2015 Oct 24 doi: 10.1007/s00276-015-1579-4. PMID: 26498934
Celik SE, Kara A
J Neurosurg Pediatr 2008 Mar;1(3):258-60. doi: 10.3171/PED/2008/1/3/258. PMID: 18352774
Kortesis B, Richards T, David L, Glazier S, Argenta L
J Craniofac Surg 2003 Jul;14(4):538-44. doi: 10.1097/00001665-200307000-00028. PMID: 12867871
Liakos AM, Bradley NK, Magram G, Muszynski C
Neurol Res 2000 Jan;22(1):69-88. doi: 10.1080/01616412.2000.11741040. PMID: 10672583
Kaplan SB, Kemp SS, Oh KS
Radiol Clin North Am 1991 Mar;29(2):195-218. PMID: 1998047

Clinical prediction guides

Bran G, Van Genechten M
Aesthet Surg J 2023 Oct 13;43(11):NP825-NP831. doi: 10.1093/asj/sjad249. PMID: 37682857
de Souza Ferreira MR, Galvão APO, de Queiroz Lima PTMB, de Queiroz Lima AMB, Magalhães CP, Valença MM
Surg Radiol Anat 2021 Jul;43(7):1159-1168. Epub 2021 Jan 5 doi: 10.1007/s00276-020-02650-0. PMID: 33399919
Sasaki E, Byrne AT, Murray DJ, Reardon W
Am J Med Genet A 2020 Dec;182(12):2994-2998. Epub 2020 Sep 25 doi: 10.1002/ajmg.a.61882. PMID: 32975022
Mendoza-Londono R, Lammer E, Watson R, Harper J, Hatamochi A, Hatamochi-Hayashi S, Napierala D, Hermanns P, Collins S, Roa BB, Hedge MR, Wakui K, Nguyen D, Stockton DW, Lee B
Am J Hum Genet 2005 Jul;77(1):161-8. Epub 2005 May 27 doi: 10.1086/431654. PMID: 15924278Free PMC Article
Kaplan SB, Kemp SS, Oh KS
Radiol Clin North Am 1991 Mar;29(2):195-218. PMID: 1998047

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