Research & Literature

Congenital interparietal encephalocele: a case report.

Nayak A, Sharma S, Vadher RK, et al.

Journal of clinical and diagnostic research : JCDR 2015; (9(4)):PD09-10 doi:10.7860/JCDR/2015/11944.5812.

A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.

Labonne JD, Vogt J, Reali L, et al.

American journal of medical genetics. Part A 2015; (167A(12)):3011-8 doi:10.1002/ajmg.a.37344.

Enlarged parietal foramina presenting as scalp swelling in an infant.

Chidambaram VA, Hamouda ES

The Medical journal of Malaysia 2015; (70(4)):263-4.

A randomized controlled trial comparing autologous cranioplasty with custom-made titanium cranioplasty.

Honeybul S, Morrison DA, Ho KM, et al.

Journal of neurosurgery 2017; (126(1)):81-90 doi:10.3171/2015.12.JNS152004.

[Mother and son with enlarged parietal foramina, persistent fetal vein, and ALX4 mutation].

Morita M, Nanba E, Adachi K, Ohno K

No to hattatsu = Brain and development 2016; (48(3)):205-8.

Foramina parietalia permagna: familial and radiological evaluation of two cases and review of literature.

Gabor L, Canaz H, Canaz G, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2017; (33(5)):853-857 doi:10.1007/s00381-016-3315-8.

A review of extraaxial developmental venous anomalies of the brain involving dural venous flow or sinuses: persistent embryonic sinuses, sinus pericranii, venous varices or aneurysmal malformations, and enlarged emissary veins.

Manjila S, Bazil T, Thomas M, et al.

Neurosurgical focus 2018; (45(1)):E9.

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.

Hamanaka K, Sugawara Y, Shimoji T, et al.

European journal of human genetics : EJHG 2019; (27(3)):378-383 doi:10.1038/s41431-018-0289-x.

Titanium mesh cranioplasty in pediatric patients after decompressive craniectomy: Appropriate timing for pre-schoolers and early school age children.

Sheng HS, Shen F, Zhang N, et al.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery 2019; (47(7)):1096-1103 doi:10.1016/j.jcms.2019.04.009.

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.

Srivastava S, Love-Nichols JA, Dies KA, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(11)):2413-2421 doi:10.1038/s41436-019-0554-6.

Teaching NeuroImages: Enlarged parietal foramina inadvertently labeled as burr holes.

Fernandez J, Woodson S, Cannard K

Neurology 2019; (93(8)):e827-e828 doi:10.1212/WNL.0000000000007978.

Falcine Sinus and Parafalcine Collateral Veins in Meningiomas Invading the Superior Sagittal Sinus.

Yin T, Zhang H, Wang W, et al.

World neurosurgery 2019; (132()):e434-e442 doi:10.1016/j.wneu.2019.08.120.

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.

Kim HG, Rosenfeld JA, Scott DA, et al.

Molecular autism 2019; (10()):35 doi:10.1186/s13229-019-0286-0.

Heparan sulfate deficiency leads to hypertrophic chondrocytes by increasing bone morphogenetic protein signaling.

Kawashima K, Ogawa H, Komura S, et al.

Osteoarthritis and cartilage 2020; (28(11)):1459-1470 doi:10.1016/j.joca.2020.08.003.

New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review.

Trajkova S, Di Gregorio E, Ferrero GB, et al.

Brain sciences 2020; (10(11)) doi:10.3390/brainsci10110788.

A Rare Congenital Cause of Epilepsy.

Gopal N, Jain A, Sandhu SJS, et al.

Cureus 2020; (12(10)):e11204 doi:10.7759/cureus.11204.

Chiari I malformation with craniosynostosis and persistent falcine sinus draining into the straight sinus.

Newton E, Iwanaga J, Dumont AS, Tubbs RS

Morphologie : bulletin de l'Association des anatomistes 2021; (105(351)):323-326 doi:10.1016/j.morpho.2020.11.009.

Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.

Walters ME, Lacassie Y, Azamian M, et al.

American journal of medical genetics. Part A 2021; (185(3)):916-922 doi:10.1002/ajmg.a.62036.

Multiple Osteochondromas Comorbid With Enlarged Parietal Foramina, Elongated Styloid Processes, and Tibiofibular Synostosis.

Baugher EC, Batarseh TR, Becker AK, et al.

American journal of clinical pathology 2021; (156(4)):513-520 doi:10.1093/ajcp/aqaa282.

Imaging Spectrum of Calvarial Abnormalities.

Khodarahmi I, Alizai H, Chalian M, et al.

Radiographics : a review publication of the Radiological Society of North America, Inc 2021; (41(4)):1144-1163 doi:10.1148/rg.2021200198.

Foramina parietalia permagna: Clinical radiological evaluation of a Spanish family with an undescribed mutation in the ALX4 gene.

Bote Gascón M, Martínez Del Río C, García Ron A

Anales de pediatria 2021; (95(2)):121-122 doi:10.1016/j.anpede.2020.07.018.

Parietal Encephalocele With Fenestrated Superior Sagittal Sinus and Persistent Falcine Sinus.

Kokidko Y, Ranalli N, Shah C

Cureus 2021; (13(6)):e16019 doi:10.7759/cureus.16019.

A persistent falcine sinus in a child with venous sinus thrombosis.

Guarnizo A, Morillo AJ, Bermúdez S

Acta neurologica Belgica 2023; (123(3)):1123-1124 doi:10.1007/s13760-022-01912-5.

A retrospective study of incidental findings occurring in a consecutive case series of lateral cephalograms of 12- to 20-year-old patients referred for routine orthodontic treatment.

MacDonald D, Patel A, Zou B, et al.

Imaging science in dentistry 2022; (52(3)):295-302 doi:10.5624/isd.20220402.

Persistent falcine sinus in the newborn: 3 case reports of associated anomalies.

Rousslang LK, Coleman TJ, Meldrum JT, et al.

Radiology case reports 2023; (18(3)):886-894 doi:10.1016/j.radcr.2022.11.019.

The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients.

Poole RL, Bijlsma EK, Houge G, et al.

Clinical dysmorphology 2023; (32(2)):49-54 doi:10.1097/MCD.0000000000000455.

A topographical analysis of encephalocele locations: generation of a standardised atlas and cluster analysis.

Vakharia VN, Toescu S, Copp AJ, Thompson DNP

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2023; (39(7)):1911-1920 doi:10.1007/s00381-023-05883-7.

Repair of Congenital Enlarged Parietal Foramina With Porous Polyethylene Implants.

Wallace RD, Uygur S, Konofaos P, Klimo P

The Journal of craniofacial surgery 2023; (34(5)):1548-1549 doi:10.1097/SCS.0000000000009311.

Bilateral Foramina Parietalia Permagna - A Calvarial Defect Caused by Haploinsufficiency of the Msh Homeobox 2 Gene: A Case Report and Current Literature Review.

Kahl N, Lüsebrink N, Schubert-Bast S, et al.

Neuropediatrics 2024; (55(3)):205-208 doi:10.1055/s-0044-1781465.

High-Density Porous Polyethylene Implant Cranioplasty: A Systematic Review of Outcomes.

Perozzo FAG, Ku YC, Kshettry VR, et al.

The Journal of craniofacial surgery 2024; (35(4)):1074-1079 doi:10.1097/SCS.0000000000010135.

Diagnostic evaluation of patients with epileptic spasms in the era of next-generation sequencing.

Mir A, AlQahtani M, Amer F, et al.

Epileptic disorders : international epilepsy journal with videotape 2024; (26(5)):651-661 doi:10.1002/epd2.20259.

RUNX2 regulation in osteoblast differentiation: A possible therapeutic function of the lncRNA and miRNA-mediated network.

Arya PN, Saranya I, Selvamurugan N

Differentiation; research in biological diversity 2024; (140()):100803 doi:10.1016/j.diff.2024.100803.

Nuclear factor I-C regulates intramembranous bone formation via control of FGF signalling.

Lee J, Park JC, Kim HJ, et al.

Heliyon 2025; (11(2)):e41789 doi:10.1016/j.heliyon.2025.e41789.

Congenital interparietal encephalocele with porencephlacic cyst: A case report.

Tadishu B, Kahsay SH, Yibalih S, Teklebirhan Y

Radiology case reports 2025; (20(8)):3986-3989 doi:10.1016/j.radcr.2025.04.133.

AI-Based CT Image Recognition With Med-Gemini-3D in the Diagnosis of a Rare Craniofacial Condition: A Catlin Mark Skull.

Hajebian HH, Friel MT

The Journal of craniofacial surgery 2026; (37(3-4)):910-913 doi:10.1097/SCS.0000000000012413.

New insights into enlarged parietal foramina: an anatomical, radiological, and histological study.

Seltzer LA, Hines BL, Weisberg ZS, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2026; (42(1)).