Research & Literature

Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement.

Chaudhry A, Sabatini P, Han L, et al.

American journal of medical genetics. Part A 2015; (167A(11)):2544-7 doi:10.1002/ajmg.a.37218.

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.

Faden M, AlZahrani F, Mendoza-Londono R, et al.

American journal of human genetics 2015; (97(4)):608-15.

Social and Support Services Offered by Cleft and Craniofacial Teams: A National Survey and Institutional Experience.

Ascha M, McDaniel J, Link I, et al.

The Journal of craniofacial surgery 2016; (27(2)):356-60 doi:10.1097/SCS.0000000000002385.

Genetic Syndromes Associated with Craniosynostosis.

Ko JM

Journal of Korean Neurosurgical Society 2016; (59(3)):187-91 doi:10.3340/jkns.2016.59.3.187.

Physiological Changes and Clinical Implications of Syndromic Craniosynostosis.

Sakamoto H, Matsusaka Y, Kunihiro N, Imai K

Journal of Korean Neurosurgical Society 2016; (59(3)):204-13 doi:10.3340/jkns.2016.59.3.204.

Prevention and management of hearing loss in syndromic craniosynostosis: A case series.

Biamino E, Canale A, Lacilla M, et al.

International journal of pediatric otorhinolaryngology 2016; (85()):95-8.

A Perioperative Risk Comparison of Posterior Vault Distraction Osteogenesis in an Older Pediatric Population.

Li J, Gerety PA, Xu W, et al.

The Journal of craniofacial surgery 2016; (27(5)):1165-9 doi:10.1097/SCS.0000000000002795.

Nonsyndromic Craniosynostosis and Deformational Head Shape Disorders.

Morris LM

Facial plastic surgery clinics of North America 2016; (24(4)):517-530 doi:10.1016/j.fsc.2016.06.007.

Multidisciplinary care of craniosynostosis.

Buchanan EP, Xue Y, Xue AS, et al.

Journal of multidisciplinary healthcare 2017; (10()):263-270 doi:10.2147/JMDH.S100248.

Corrected Cephalometric Analysis to Determine the Distance and Vector of Distraction Osteogenesis for Syndromic Craniosynostosis.

Kobayashi S, Fukawa T, Hirakawa T, et al.

Plastic and reconstructive surgery. Global open 2017; (5(9)):e1482 doi:10.1097/GOX.0000000000001482.

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.

Nambot S, Thevenon J, Kuentz P, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2018; (20(6)):645-654 doi:10.1038/gim.2017.162.

Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system.

Maximino LP, Ducati LG, Abramides DVM, et al.

Arquivos de neuro-psiquiatria 2017; (75(12)):862-868 doi:10.1590/0004-282X20170171.

Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.

Kutkowska-Kaźmierczak A, Gos M, Obersztyn E

Journal of applied genetics 2018; (59(2)):133-147 doi:10.1007/s13353-017-0423-4.

An audiological evaluation of syndromic and non-syndromic craniosynostosis in pre-school going children.

Goh LC, Azman A, Siti HBK, et al.

International journal of pediatric otorhinolaryngology 2018; (109()):50-53 doi:10.1016/j.ijporl.2018.03.010.

IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.

Brischoux-Boucher E, Trimouille A, Baujat G, et al.

Clinical genetics 2018; (94(3-4)):373-380 doi:10.1111/cge.13409.

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.

Simsek-Kiper PO, Taskiran EZ, Kosukcu C, et al.

American journal of medical genetics. Part A 2018; (176(9)):2009-2016 doi:10.1002/ajmg.a.40427.

Posterior Distraction First or Fronto-Orbital Advancement First for Severe Syndromic Craniosynostosis.

Iida C, Sakamoto Y, Miwa T, et al.

The Journal of craniofacial surgery 2019; (30(1)):47-49 doi:10.1097/SCS.0000000000004897.

Reliable manifestations of increased intracranial pressure in patients with syndromic craniosynostosis.

Kim SY, Choi JW, Shin HJ, Lim SY

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery 2019; (47(1)):158-164 doi:10.1016/j.jcms.2018.10.021.

Retroposition of the Globe After Le Fort III Midfacial Distraction.

Resnick CM, Salcines A, Hughes CD, et al.

The Journal of craniofacial surgery 2019; (30(2)):358-362 doi:10.1097/SCS.0000000000005027.

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Glass GE, O'Hara J, Canham N, et al.

American journal of medical genetics. Part A 2019; (179(4)):615-627 doi:10.1002/ajmg.a.61073.

Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon-like autosomal recessive syndrome.

Korakavi N, Prokop JW, Seaver LH

American journal of medical genetics. Part A 2019; (179(4)):668-673 doi:10.1002/ajmg.a.61070.

Syndromic Craniosynostosis.

Sawh-Martinez R, Steinbacher DM

Clinics in plastic surgery 2019; (46(2)):141-155 doi:10.1016/j.cps.2018.11.009.

Genetic Causes of Craniosynostosis: An Update.

Goos JAC, Mathijssen IMJ

Molecular syndromology 2019; (10(1-2)):6-23 doi:10.1159/000492266.

Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature.

Ting CY, Bhatia NS, Lim JY, et al.

European journal of medical genetics 2020; (63(2)):103652 doi:10.1016/j.ejmg.2019.04.009.

Adenotonsillectomy in children with syndromic craniosynostosis: a systematic review and meta-analysis.

Saengthong P, Chaitusaney B, Hirunwiwatkul P, Charakorn N

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2019; (276(6)):1555-1560 doi:10.1007/s00405-019-05427-3.

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.

Unolt M, Kammoun M, Nowakowska B, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(2)):326-335 doi:10.1038/s41436-019-0645-4.

A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.

Liu M, Zhang X, Liu H, Shen Y

Molecular genetics & genomic medicine 2020; (8(9)):e1392 doi:10.1002/mgg3.1392.

A 2020 update on the use of genetic testing for patients with primary immunodeficiency.

Chinn IK, Orange JS

Expert review of clinical immunology 2020; (16(9)):897-909 doi:10.1080/1744666X.2020.1814145.

Clinical Utility of Next-Generation Sequencing for Developmental Disorders in the Rehabilitation Department: Experiences from a Single Chinese Center.

Liu Y, Liu X, Qin D, et al.

Journal of molecular neuroscience : MN 2021; (71(4)):845-853 doi:10.1007/s12031-020-01707-4.

Craniosynostosis: To Study the Spectrum and Outcome of Surgical Intervention at a Tertiary Referral Institute in India.

Gandhoke CS, Syal SK, Sharma A, et al.

Journal of pediatric neurosciences 2020; (15(2)):72-80 doi:10.4103/jpn.JPN_101_18.

The odyssey of complex neurogenetic disorders: From undetermined to positive.

Salinas V, Vega P, Marsili L, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2020; (184(4)):876-884 doi:10.1002/ajmg.c.31848.

Serial Posterior Cranial Vault Distraction for the Treatment of Complex Craniosynostosis.

Veith J, Johns D, Mehta ST, et al.

The Journal of craniofacial surgery 2021; (32(1)):32-35 doi:10.1097/SCS.0000000000006835.

Dissection of contiguous gene effects for deletions around ERF on chromosome 19.

Calpena E, McGowan SJ, Blanco Kelly F, et al.

Human mutation 2021; (42(7)):811-817 doi:10.1002/humu.24213.

Prenatal diagnosis of Meier-Gorlin syndrome 7: a case presentation.

Li X, Zhang LZ, Yu L, et al.

BMC pregnancy and childbirth 2021; (21(1)):381 doi:10.1186/s12884-021-03868-5.

Craniosynostosis: Posterior Cranial Vault Remodeling.

Humphries LS, Swanson JW, Bartlett SP, Taylor JA

Clinics in plastic surgery 2021; (48(3)):455-471 doi:10.1016/j.cps.2021.03.001.

Ophthalmic features of craniosynostosis: A Malaysian experience.

Rafique Ali AA, Ismail F, May May C, et al.

European journal of ophthalmology 2022; (32(3)):1417-1423 doi:10.1177/11206721211030093.

Much Ado about Sleep: Current Concepts on Mechanisms and Predisposition to Pediatric Obstructive Sleep Apnea.

Saint-Fleur AL, Christophides A, Gummalla P, Kier C

Children (Basel, Switzerland) 2021; (8(11)) doi:10.3390/children8111032.

Morbidity Associated With Anterior Versus Posterior Cranial Vault Expansion for Early Treatment of Syndromic Craniosynostosis: A Systematic Review and Meta-Analysis.

Richardson IJ, Wager LE, Recker MJ, et al.

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons 2022; (80(4)):651-661 doi:10.1016/j.joms.2021.10.022.

Prevalence of Ocular Anomalies in Craniosynostosis: A Systematic Review and Meta-Analysis.

Rostamzad P, Arslan ZF, Mathijssen IMJ, et al.

Journal of clinical medicine 2022; (11(4)) doi:10.3390/jcm11041060.

Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.

Nerakh G, Vineeth VS, Tallapaka K, et al.

American journal of medical genetics. Part A 2022; (188(7)):2139-2146 doi:10.1002/ajmg.a.62725.

The outcome of targeted NGS screening in patients with syndromic forms of sagittal and pansynostosis - IL11RA is an emerging core-gene for pansynostosis.

Topa A, Rohlin A, Andersson MK, et al.

European journal of medical genetics 2022; (65(5)):104476 doi:10.1016/j.ejmg.2022.104476.

Cognitive, Behavioural, Speech, Language and Developmental Outcomes Associated with Pathogenic Variants in the ERF Gene.

Care H, Luscombe C, Wall SA, et al.

The Journal of craniofacial surgery 2022; (33(6)):1847-1852 doi:10.1097/SCS.0000000000008659.

Subcranial Midface Advancement in Patients with Syndromic Craniosynostosis.

Massenburg BB, Susarla SM, Kapadia HP, Hopper RA

Oral and maxillofacial surgery clinics of North America 2022; (34(3)):467-475 doi:10.1016/j.coms.2022.01.002.

Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism.

Li D, Strong A, Hou C, et al.

Molecular cytogenetics 2022; (15(1)):33 doi:10.1186/s13039-022-00610-4.

ERF-related craniosynostosis and surgical management in the paediatric cohort.

Afshari FT, Gallo P, Shafi A, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2023; (39(4)):983-988 doi:10.1007/s00381-022-05700-7.

Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon.

Salman DO, Mahfouz R, Bitar ER, et al.

Frontiers in genetics 2022; (13()):1029947 doi:10.3389/fgene.2022.1029947.

Interdisciplinary Team Care for Children with Facial Differences.

O'Gara M, Alcocer Alkureishi L, Alkureishi L, Barhight L

Pediatric annals 2023; (52(1)):e18-e22 doi:10.3928/19382359-20221114-04.

Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman.

Pachajoa H, Vasquez-Forero DM, Giraldo-Ocampo S

Frontiers in genetics 2022; (13()):1092301 doi:10.3389/fgene.2022.1092301.

Fusion of Lateral Calvarial Sutures on Volume-Rendered Computed Tomography Reconstructions in Patients With Known Craniosynostosis.

Wilkinson CC, Belanger K, Elbadry R, et al.

The Journal of craniofacial surgery 2023; (34(3)):969-975 doi:10.1097/SCS.0000000000009278.

Are Patients with Syndromic Craniosynostosis at Greater Risk for Epilepsy than Patients with Nonsyndromic Craniosynostosis?

Stanbouly D, Asi AM, Ascherman JA, et al.

World neurosurgery 2024; (181()):e45-e54 doi:10.1016/j.wneu.2023.06.024.

The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans.

Ahmad I, Lokau J, Kespohl B, et al.

Scientific reports 2023; (13(1)):13479 doi:10.1038/s41598-023-39466-y.

Incidence of Airway Abnormalities in Children With Craniosynostosis.

Eitan D, Bhuskute A, Scheffler P

The Journal of craniofacial surgery 2024; (35(1)):192-193 doi:10.1097/SCS.0000000000009793.

[PETERS ANOMALY AND PETERS PLUS SYNDROME].

Yahalomi T, Elbaz U

Harefuah 2023; (162(9)):616-618.

Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.

Singh S, Shah H, Dalal A, et al.

American journal of medical genetics. Part A 2024; (194(8)):e63601 doi:10.1002/ajmg.a.63601.

Long-term sequelae of normocephalic pansynostosis: a rare but insidious entity.

Wu M, Massenburg BB, Reddy N, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2024; (40(7)):2125-2134 doi:10.1007/s00381-024-06379-8.

Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent.

Duraisamy AJ, Liu R, Sureshkumar S, et al.

The Journal of molecular diagnostics : JMD 2024; (26(6)):510-519 doi:10.1016/j.jmoldx.2024.03.005.

Apert syndrome: neurosurgical outcomes and complications following posterior vault distraction osteogenesis.

Raposo-Amaral CE, Vincenzi-Lemes M, Medeiros ML, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2024; (40(8)):2557-2563 doi:10.1007/s00381-024-06436-2.

Genetic Heterogeneity, Craniofacial Surgical Burden, and Surgical Techniques in Patients With Saethre-Chotzen Syndrome.

Romeo DJ, Oral KT, Massenburg BB, et al.

The Journal of craniofacial surgery 2024; doi:10.1097/SCS.0000000000010348.

Improving Craniofacial Team Collaboration: A Multicenter Interview Study of Effective Team Meetings.

Hollingsworth E, Shields BH, Rutter C, et al.

Journal of multidisciplinary healthcare 2024; (17()):3589-3603 doi:10.2147/JMDH.S457581.

[Optic canal stenosis in Crouzon syndrome: a case report and literature review].

Bolotnikova IV, Shapovalov AS, Bazarkhandaeva TB, et al.

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko 2024; (88(4)):100-106 doi:10.17116/neiro202488041100.

Clinical analysis of Le Fort III distraction for obstructive sleep apnea in pediatric patients with syndromic craniosynostosis.

Liu Y, Xu T, Zhang Y, Liu XJ

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery 2024; (52(11)):1360-1366 doi:10.1016/j.jcms.2024.04.002.

Craniosynostosis: Current Evaluation and Management.

Sullivan LE, Li R, Tong VS, et al.

Annals of plastic surgery 2024; (93(6S Suppl 3)):S144-S149 doi:10.1097/SAP.0000000000004131.

Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing.

Xu J, Su W, Wang Y, et al.

BMC pediatrics 2024; (24(1)):766 doi:10.1186/s12887-024-05245-5.

Free-floating bone flap posterior cranial vault release in syndromic craniosynostosis.

Liang QC, Kang X, Gao PP, et al.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery 2025; (53(2)):114-121 doi:10.1016/j.jcms.2024.11.009.

Craniosynostosis-4 with Heterozygous Mutation in the ERF Gene: A Case Report.

Ranganathan R, Jampanapalli SR, Barathi D

International journal of clinical pediatric dentistry 2024; (17(10)):1163-1167 doi:10.5005/jp-journals-10005-2959.

Quality Improvement of Single-Institution Craniofacial Center Multidisciplinary Meetings Using Standardized Meeting Guides.

Monk AS, Hollingsworth E, Benaim EH, et al.

Laryngoscope investigative otolaryngology 2025; (10(1)):e70099 doi:10.1002/lio2.70099.

OSA pathophysiology: a contemporary update.

Tolbert TM, Ayappa I, Rapoport DM

Australian dental journal 2024; (69 Suppl 1()):S68-S83 doi:10.1111/adj.13060.

Determining the cause of optic nerve atrophy in syndromic craniosynostosis using logistic regression.

Ban Obaidellah S, Mohamed NA, Abdullah NA, et al.

International ophthalmology 2025; (45(1)):127 doi:10.1007/s10792-025-03442-4.

Non-syndromic craniosynostosis.

Alperovich M, Tonello C, Mayes LC, Kahle KT

Nature reviews. Disease primers 2025; (11(1)):24 doi:10.1038/s41572-025-00607-4.

Genetic Insights Into Craniosynostosis: Identification of Novel IL11RA Variants in Chinese Pediatric Patients.

Liu Z, Zhou D, Wang C, et al.

Molecular genetics & genomic medicine 2025; (13(5)):e70106 doi:10.1002/mgg3.70106.

Mechanisms and Management of Obstructive Sleep Apnea: A Translational Overview.

Kang YJ, Park CS

Clinical and experimental otorhinolaryngology 2025; (18(4)):296-305 doi:10.21053/ceo.2025-00071.

Posterior Vault Distraction Osteogenesis: A Systematic Review and Single-Arm Metanalysis.

Franco-Mesa C, De La Cruz Ku G, Palackic A, et al.

The Journal of craniofacial surgery 2025; (36(2)):513-517 doi:10.1097/SCS.0000000000010962.

Diagnostic performance of chromosomal microarray and whole exome sequencing in fetal structural anomalies: a single-center retrospective study.

Özer L, Aktuna S, Ünsal E

BMC pregnancy and childbirth 2025; (25(1)):1029 doi:10.1186/s12884-025-08167-x.

Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum.

Taşdelen E, Gönül M, Öztelcan Gündüz B, et al.

Molecular syndromology 2026; (17(3)):255-263 doi:10.1159/000547411.

Orthodontic Care Delivery Across American Cleft Palate and Craniofacial Association (ACPA) Teams in the US.

Pitre KC, Hecox EE, McCall RR, et al.

Annals of plastic surgery 2026; (96(6S)):S484-S490 doi:10.1097/SAP.0000000000004588.

Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis.

Tengsujaritkul M, Louthrenoo O, Likhitweerawong N, et al.

Annals of medicine 2026; (58(1)):2609424 doi:10.1080/07853890.2025.2609424.

Neurodevelopmental outcomes in children with craniosynostosis: a retrospective cross-sectional analysis.

Bashawieh OO, Alyami MH, Alghamdi MA, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2026; (42(1)):49 doi:10.1007/s00381-026-07128-9.