Research & Literature

Trends in Inpatient Pediatric Polysomnography for Laryngomalacia and Craniofacial Anomalies.

Tawfik KO, Sedaghat AR, Ishman SL

The Annals of otology, rhinology, and laryngology 2016; (125(1)):82-9 doi:10.1177/0003489415596756.

A Delayed Finding of a Tracheal Cartilaginous Sleeve in a Patient with Pfeiffer Syndrome Type 2 and a Complex Airway History.

Colomb C, Hippard HK, Canadas K, Watcha M

A & A case reports 2015; (5(3)):36-9 doi:10.1213/XAA.0000000000000175.

First Vault Expansion in Apert and Crouzon-Pfeiffer Syndromes: Front or Back?

Spruijt B, Rijken BFM, den Ottelander BK, et al.

Plastic and reconstructive surgery 2016; (137(1)):112e-121e doi:10.1097/PRS.0000000000001894.

Tracheal cartilaginous sleeves in children with syndromic craniosynostosis.

Wenger TL, Dahl J, Bhoj EJ, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(1)):62-68 doi:10.1038/gim.2016.60.

The ophthalmic sequelae of Pfeiffer syndrome and the long-term visual outcomes after craniofacial surgery.

Sharma N, Greenwell T, Hammerton M, et al.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2016; (20(4)):315-9.

The Primary Care Pediatrician and the Care of Children With Cleft Lip and/or Cleft Palate.

Lewis CW, Jacob LS, Lehmann CU,

Pediatrics 2017; (139(5)) doi:10.1542/peds.2017-0628.

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.

Age-Related Differences in Psychosocial Function of Children with Craniofacial Anomalies.

Volpicelli EJ, Pfaff MJ, Hakimi K, et al.

Plastic and reconstructive surgery 2017; (140(4)):776-784 doi:10.1097/PRS.0000000000003687.

Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations.

Sargar KM, Singh AK, Kao SC

Radiographics : a review publication of the Radiological Society of North America, Inc 2017; (37(6)):1813-1830 doi:10.1148/rg.2017170017.

Identifying Psychosocial Risk Factors Among Families of Children With Craniofacial Conditions: Validation of the Psychosocial Assessment Tool-Craniofacial Version.

Crerand CE, Kapa HM, Litteral J, et al.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2018; (55(4)):536-545 doi:10.1177/1055665617748010.

Ophthalmic considerations in patients with Pfeiffer syndrome.

Clark JD, Compton CJ, Tahiri Y, et al.

American journal of ophthalmology case reports 2016; (2()):1-3 doi:10.1016/j.ajoc.2016.04.001.

Pleural effusion from intrathoracic migration of a ventriculo-peritoneal shunt catheter: pediatric case report and review of the literature.

Porcaro F, Procaccini E, Paglietti MG, et al.

Italian journal of pediatrics 2018; (44(1)):42 doi:10.1186/s13052-018-0480-2.

Chinese patients with p.Ala172Phe-related Pfeiffer syndrome: a case and literature review.

Cheng SSW, Lo IF, Luk HM

Clinical dysmorphology 2018; (27(3)):84-87 doi:10.1097/MCD.0000000000000225.

A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality.

Wenger TL, Hopper RA, Rosen A, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(2)):471-476 doi:10.1038/s41436-018-0073-x.

Overcorrected Midface Advancement to Improve Airway Problems in Severe Pfeiffer Syndrome Types II and III.

Kobayashi S, Fukawa T, Yasumura K, et al.

The Journal of craniofacial surgery 2019; (30(1)):53-56 doi:10.1097/SCS.0000000000004936.

Intraoperative Management by a Craniofacial Team Anesthesiologist is Associated With Improved Outcomes for Children Undergoing Major Craniofacial Reconstructive Surgery.

Reddy SK, Patel RS, Rogers GF, et al.

The Journal of craniofacial surgery 2019; (30(2)):418-423 doi:10.1097/SCS.0000000000005086.

Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology.

Rai R, Iwanaga J, Dupont G, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2019; doi:10.1007/s00381-019-04082-7.

Syndromic Craniosynostosis.

Sawh-Martinez R, Steinbacher DM

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

A case study of atypical Larsen syndrome with absent hallmark joint dislocations.

Kodra N, Diamonstein C, Hauser NS

Molecular genetics & genomic medicine 2019; (7(5)):e648 doi:10.1002/mgg3.648.

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.

Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review.

Peña-Padilla C, Viramontes-Aguilar L, Tavares-Macías G, et al.

Fetal and pediatric pathology 2019; (38(5)):412-417 doi:10.1080/15513815.2019.1603256.

Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology.

Rai R, Iwanaga J, Dupont G, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2019; (35(9)):1451-1455 doi:10.1007/s00381-019-04244-7.

Hydrocephalus and Chiari malformation pathophysiology in FGFR2-related faciocraniosynostosis: A review.

Coll G, El Ouadih Y, Abed Rabbo F, et al.

Neuro-Chirurgie 2019; (65(5)):264-268 doi:10.1016/j.neuchi.2019.09.001.

Sleep-Disordered Breathing and Airway Assessment Using Polysomnography in Pediatric Patients With Craniofacial Disorders.

Bekisz JM, Wang MM, Rickert SM, et al.

The Journal of craniofacial surgery 2020; (31(3)):720-726 doi:10.1097/SCS.0000000000006249.

Kleeblattschädel in Pfeiffer syndrome type II.

Pfeifer CM

Radiology case reports 2020; (15(5)):474-478 doi:10.1016/j.radcr.2020.01.034.

Long-Term Follow-Up on Bone Stability and Complication Rate after Monobloc Advancement in Syndromic Craniosynostosis.

Raposo-Amaral CE, Denadai R, Zanco GL, et al.

Plastic and reconstructive surgery 2020; (145(4)):1025-1034 doi:10.1097/PRS.0000000000006646.

Long-Term Effect of Multiple Operations on Psychosocial Function in Teenage Cleft Lip and Palate Patients.

Potemra HMK, Lin J, Bertrand AA, et al.

Plastic and reconstructive surgery 2020; (146(1)):61e-68e doi:10.1097/PRS.0000000000006905.

Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report.

Torres-Canchala L, Castaño D, Silva N, et al.

The application of clinical genetics 2020; (13()):147-150 doi:10.2147/TACG.S251581.

Impact of a Multidisciplinary Craniofacial Clinic for Patients With Craniofacial Syndromes on Patient Satisfaction and Outcome.

Hoffman C, Yuan M, Boyke A, et al.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2020; (57(12)):1357-1361 doi:10.1177/1055665620948767.

Pfeiffer Syndrome type 2; A case report of cranio-orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital, Tanzania.

Amiji I, Kalezi ZE, Abdulshakoor A, et al.

Clinical case reports 2020; (8(9)):1613-1617 doi:10.1002/ccr3.2959.

Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated Pfeiffer Syndrome.

Kilcoyne S, Potter KR, Gordon Z, et al.

The Journal of craniofacial surgery 2021; (32(1)):134-140 doi:10.1097/SCS.0000000000007153.

Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant.

Raposo-Amaral CE, Oliveira YM, Denadai R, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2021; (37(7)):2391-2397 doi:10.1007/s00381-020-04993-w.

Fronto-Orbital Advancement and Posterior Cranial Vault Expansion Using Distraction Osteogenesis in Patients With Multiple Craniosynostosis.

Kamil M, Oyoshi T, Komasaku S, et al.

The Journal of craniofacial surgery 2021; (32(5)):1882-1885 doi:10.1097/SCS.0000000000007442.

Posterior vault distraction osteogenesis: indications and expectations.

Carlson AR, Taylor JA

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2021; (37(10)):3119-3125 doi:10.1007/s00381-021-05118-7.

Analytical study of the psychosocial impact of malocclusion and maxillofacial deformity in patients undergoing orthodontic treatment.

Rai A, Kumari M, Kumar T, et al.

Journal of medicine and life 2021; (14(1)):21-31 doi:10.25122/jml-2020-0022.

Tracheal cartilaginous sleeve in Pfeiffer syndrome: lesson learnt from its rarity.

Mahmud N, Abdul Latif H, Mohd Zaki F, Goh BS

BMJ case reports 2021; (14(4)) doi:10.1136/bcr-2020-236888.

Nasopharyngeal airway and subcranial space analysis in Pfeiffer syndrome.

Lu X, Forte AJ, Allam O, et al.

The British journal of oral & maxillofacial surgery 2021; (59(5)):592-598 doi:10.1016/j.bjoms.2020.10.008.

Evaluation of the OSA treatment protocol in syndromic craniosynostosis during the first 6 years of life.

de Goederen R, Yang S, Pullens B, et al.

Journal of plastic, reconstructive & aesthetic surgery : JPRAS 2021; (74(10)):2674-2682 doi:10.1016/j.bjps.2021.03.033.

Prenatal diagnosis of Pfeiffer syndrome and role of three-dimensional ultrasound: case report and review of literature.

Vimercati A, Olivieri C, Dellino M, et al.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2022; (35(25)):7840-7843 doi:10.1080/14767058.2021.1937984.

Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care.

Chaisrisawadisuk S, Moore MH

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2022; (59(6)):817-820 doi:10.1177/10556656211028505.

Pfeiffer syndrome in an adult with previous surgical correction: A case report of CT findings.

Duggal N, Omer A, Jupalli S, et al.

Radiology case reports 2021; (16(9)):2463-2468 doi:10.1016/j.radcr.2021.06.003.

The Impact of Social Determinants of Health in Facial and Craniomaxillofacial Reconstruction: Can We Do Better?

Khetpal S, Sasson DC, Lopez J, et al.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2022; (59(7)):938-945 doi:10.1177/10556656211037510.

Syndromic Craniosynostosis: Unique Management Considerations.

Hersh DS, Hughes CD

Neurosurgery clinics of North America 2022; (33(1)):105-112 doi:10.1016/j.nec.2021.09.008.

[A case of Pfeiffer syndrome caused by FGFR2 gene variation].

Zhuang XR, Zhao HS

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology 2022; (58(6)):453-456 doi:10.3760/cma.j.cn112142-20220226-00077.

Frontofacial Reconstruction Technique Modification With Preservation of Blood Supply to the Monobloc Segment.

King B, Veith J, Kim E, et al.

The Journal of craniofacial surgery 2022; (33(5)):e519-e520 doi:10.1097/SCS.0000000000008563.

Comparing the Increased Intracranial Volume From Different Surgical Methods for Syndromic Craniosynostosis.

Fang C, Ji M, Dong C, et al.

The Journal of craniofacial surgery 2022; (33(8)):2529-2533 doi:10.1097/SCS.0000000000008791.

Clinical and Genetic Studies of the First Monozygotic Twins with Pfeiffer Syndrome.

Kantaputra PN, Angkurawaranon S, Khwanngern K, et al.

Genes 2022; (13(10)) doi:10.3390/genes13101850.

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.

Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum.

Atique Tacla M, de Mello Copelli M, Pairet E, et al.

European journal of human genetics : EJHG 2024; (32(10)):1257-1266 doi:10.1038/s41431-023-01488-5.

Case report: A girl with witnessed sleep apnea.

Wu S, Wang W, Han F, Xu L

Frontiers in neurology 2023; (14()):1337236 doi:10.3389/fneur.2023.1337236.

Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II.

Chen CP, Huang JP, Huang KS, et al.

Taiwanese journal of obstetrics & gynecology 2024; (63(3)):387-390 doi:10.1016/j.tjog.2024.03.005.

Early posterior vault distraction osteogenesis changes the syndromic craniosynostosis treatment paradigm: long-term outcomes of a 23-year cohort study.

Wu M, Barnett SL, Massenburg BB, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2024; (40(9)):2811-2823 doi:10.1007/s00381-024-06465-x.

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.

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.

Prolonged Ventilator Dependency in a Pediatric ICU Patient With Pfeiffer Syndrome Following Le Fort I Osteotomy and Distraction Osteogenesis: A Case Report.

Lee C, Alhaj Z, Almubaid Z, et al.

Cureus 2024; (16(10)):e71617 doi:10.7759/cureus.71617.

Management of Midface Deficiency in Syndromic Craniosynostosis with Lefort III Distraction Osteogenesis, Outcomes, and Pitfalls.

Rattan V, Sharma RK, Gupta A, et al.

Journal of maxillofacial and oral surgery 2024; (23(6)):1355-1365 doi:10.1007/s12663-024-02202-8.

Temporal bone thickness analysis in craniofacial anomalies: key considerations for bone conduction hearing implants.

Charusripan P, Chinachatchawarat M, Rojvachiranonda 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 2025; (282(5)):2333-2339 doi:10.1007/s00405-024-09129-3.

Upper Airway Obstruction Trends in Craniofacial Syndromes: A Comparative Study.

Alshammasi R, Moran J, Bracken S, et al.

The Journal of craniofacial surgery 2025; (36(8)):3048-3054 doi:10.1097/SCS.0000000000011305.

Pfeiffer Syndrome (Acrocephalosyndactyly) With Significant Syndactyly and Brachydactyly: A Case Report.

Justus JO

Clinical medicine insights. Case reports 2025; (18()):11795476251353333 doi:10.1177/11795476251353333.

Reviving the Past, Moving on to the Present, and Planning for the Future of Craniofacial Malformations.

Mazzola RF, Mazzola IC

The Journal of craniofacial surgery 2025; (36(8)):2763-2772 doi:10.1097/SCS.0000000000011286.

Highlighting posterior cranial vault expansion remodeling for treating various types of craniosynostosis in children.

Yuan Y, Li Z, Gao F, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2025; (41(1)):235 doi:10.1007/s00381-025-06891-5.

A European Survey on Access to Mental Health Care Services Within ERN CRANIO.

Feragen KJB, Gavelle P, Millgård M, Kljajić M

The Journal of craniofacial surgery 2025; (36(8)):2984-2989 doi:10.1097/SCS.0000000000011282.

Management of Middle Third Hypoplasia Using Rigid External Device: Long-Term Analysis of Results and Report of Complications.

Malagón-Hidalgo HO, Cabrera-Cifuentes MM, Cálix-Garcia MA, Escobar-Rivera CG

The Journal of craniofacial surgery 2026; (37(3-4)):582-585 doi:10.1097/SCS.0000000000011805.

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.

Saad R, Lawn C, Gartland H, et al.

American journal of medical genetics. Part A 2026; (200(1)):215-222 doi:10.1002/ajmg.a.64221.