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Parietal foramina 3(PFM3)

MedGen UID:
322792
Concept ID:
C1835980
Disease or Syndrome
Synonym: PFM3
 
Monarch Initiative: MONDO:0012302
OMIM®: 609566

Definition

Parietal foramina-3 is a nonsyndromic developmental defect characterized by symmetrical oval holes in the parietal bone (Chen et al., 2003). For a discussion of genetic heterogeneity of parietal foramina, see 168500. [from OMIM]

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.
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.

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
Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):276-82. doi: 10.1016/S1028-4559(08)60124-2. PMID: 18935989
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

Diagnosis

Kahl N, Lüsebrink N, Schubert-Bast S, Freiman TM, Kieslich M
Neuropediatrics 2024 Jun;55(3):205-208. Epub 2024 Mar 6 doi: 10.1055/s-0044-1781465. PMID: 38447947
Wu XJ, Xing S, Trinkaus E
PLoS One 2013;8(3):e59587. Epub 2013 Mar 18 doi: 10.1371/journal.pone.0059587. PMID: 23527224Free PMC Article
Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):276-82. doi: 10.1016/S1028-4559(08)60124-2. PMID: 18935989
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
Liakos AM, Bradley NK, Magram G, Muszynski C
Neurol Res 2000 Jan;22(1):69-88. doi: 10.1080/01616412.2000.11741040. PMID: 10672583

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
Keskil S, Gözil R, Calgüner E
Surg Neurol 2003 Mar;59(3):228-31; discussion 231. doi: 10.1016/s0090-3019(02)01038-8. PMID: 12681561
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
Bello TO, Bajomo AA, Adeniyi TO
West Afr J Med 2009 May;28(3):182-4. doi: 10.4314/wajm.v28i3.48433. PMID: 20306736
Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):276-82. doi: 10.1016/S1028-4559(08)60124-2. PMID: 18935989
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

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
Walters ME, Lacassie Y, Azamian M, Franciskovich R, Zapata G, Hernandez PP, Liu P, Campbell IM, Bostwick BL, Lalani SR
Am J Med Genet A 2021 Mar;185(3):916-922. Epub 2020 Dec 27 doi: 10.1002/ajmg.a.62036. PMID: 33369125
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
Durão C, Carpinteiro D, Pedrosa F, Machado MP, Cunha E
Int J Legal Med 2016 May;130(3):855-7. Epub 2015 Aug 2 doi: 10.1007/s00414-015-1239-6. PMID: 26233611

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