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Parietal foramina 2(PFM2)

MedGen UID:
355358
Concept ID:
C1865044
Disease or Syndrome
Synonym: PFM2
 
Gene (location): ALX4 (11p11.2)
 
Monarch Initiative: MONDO:0012309
OMIM®: 609597

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 descriptions

From OMIM
Parietal foramina-2 (PFM2) is an autosomal dominant disorder characterized by bilateral parietal foramina in the skull. Some patients with PFM2 may also have mild features of frontonasal dysplasia, including hypertelorism or nose abnormalities (summary by Altunoglu et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of parietal foramina, see PFM1 (168500).  http://www.omim.org/entry/609597
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.

There are two forms of enlarged parietal foramina, called type 1 and type 2, which differ in their genetic cause.

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.  https://medlineplus.gov/genetics/condition/enlarged-parietal-foramina

Clinical features

From HPO
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.
Parietal foramina
MedGen UID:
526951
Concept ID:
C0222706
Body Space or Junction
The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Wide nasal ridge
MedGen UID:
866473
Concept ID:
C4020718
Finding
Increased width of the nasal ridge.
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.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

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
Edwards LS, Sachs JR, Elster AD
J Comput Assist Tomogr 2012 May-Jun;36(3):308-9. doi: 10.1097/RCT.0b013e31824d9331. PMID: 22592614
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
deSouza RM, Bassi S
Br J Neurosurg 2015 Apr;29(2):294. Epub 2014 Sep 25 doi: 10.3109/02688697.2014.957651. PMID: 25253662
Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG
Am J Hum Genet 2000 Nov;67(5):1327-32. Epub 2000 Oct 3 doi: 10.1016/S0002-9297(07)62963-2. PMID: 11017806Free PMC Article
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
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
Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF
Am J Hum Genet 2012 Jul 13;91(1):56-72. Epub 2012 Jul 5 doi: 10.1016/j.ajhg.2012.05.005. PMID: 22770980Free PMC Article
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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