Research & Literature

Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.

Ibarra-Arce A, Ortiz de Zárate-Alarcón G, Flores-Peña LG, et al.

Genetics and molecular research : GMR 2015; (14(1)):2341-6 doi:10.4238/2015.March.27.19.

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.

Alternative Methods for Nasotracheal Intubation and Extubation in a Patient With Apert Syndrome.

Tsukamoto M, Yokoyama T

Anesthesia progress 2015; (62(3)):122-4 doi:10.2344/0003-3006-62.3.122.

Central nervous system and cervical spine abnormalities in Apert syndrome.

Breik O, Mahindu A, Moore MH, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2016; (32(5)):833-8 doi:10.1007/s00381-016-3036-z.

Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.

Fernandes MB, Maximino LP, Perosa GB, et al.

American journal of medical genetics. Part A 2016; (170(6)):1532-7 doi:10.1002/ajmg.a.37640.

Apert syndrome: Surgical outcomes and perspectives.

Breik O, Mahindu A, Moore MH, et al.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery 2016; (44(9)):1238-45.

Apert Syndrome: Outcomes From the Australian Craniofacial Unit's Birth to Maturity Management Protocol.

David DJ, Anderson P, Flapper W, et al.

The Journal of craniofacial surgery 2016; (27(5)):1125-34 doi:10.1097/SCS.0000000000002709.

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.

Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies.

Tan AP, Mankad K

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2018; (34(2)):205-216 doi:10.1007/s00381-017-3670-0.

Two patients with Apert syndrome with different mutations: the importance of early diagnosis.

Işık E, Atik T, Onay H, Özkınay F

Turk pediatri arsivi 2017; (52(4)):231-235 doi:10.5152/TurkPediatriArs.2016.3305.

Central Coalition Osteotomy of Phalangeal Synostoses in the Management of the Type III Apert Hand.

Theman TA, Upton J, Taghinia AH, et al.

The Journal of hand surgery 2018; (43(11)):1042.e1-1042.e8 doi:10.1016/j.jhsa.2018.03.050.

Treatment of Apert Hand Syndrome: Strategies for Achieving a Five-Digit Hand.

Raposo-Amaral CE, Denadai R, Furlan P, Raposo-Amaral CA

Plastic and reconstructive surgery 2018; (142(4)):972-982 doi:10.1097/PRS.0000000000004815.

Ultrasound diagnosis of tracheal cartilaginous sleeve in a patient with Pfeiffer syndrome.

Wanner MR, Marine MB, Dahl JP

Pediatric radiology 2018; (48(12)):1814-1816 doi:10.1007/s00247-018-4207-8.

Aberrant growth of the anterior cranial base relevant to severe midface hypoplasia of Apert syndrome.

Cha BK, Choi DS, Jang IS, et al.

Maxillofacial plastic and reconstructive surgery 2018; (40(1)):40 doi:10.1186/s40902-018-0179-8.

Apert syndrome without craniosynostosis.

de Ângelis Ramos D, Matushita H, Cardeal DD, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2019; (35(3)):565-567 doi:10.1007/s00381-019-04050-1.

Variable phenotypic expression of Apert syndrome in monozygotic twins.

Dap M, Bach-Segura P, Bertholdt C, et al.

Clinical case reports 2019; (7(1)):54-57 doi:10.1002/ccr3.1915.

Apert syndrome with congenital diaphragmatic hernia: another case report and review of the literature.

Kaur R, Mishra P, Kumar S, et al.

Clinical dysmorphology 2019; (28(2)):78-80 doi:10.1097/MCD.0000000000000261.

Long-Term Functional Upper-Extremity Outcomes in Adults with Apert Syndrome.

Taghinia AH, Yorlets RR, Doyle M, et al.

Plastic and reconstructive surgery 2019; (143(4)):1136-1145 doi:10.1097/PRS.0000000000005479.

Unilateral Coronal Craniosynostosis in an Apert-Like Patient.

Pourtaheri N, Wang DZ, Lesko RP, et al.

Plastic surgery (Oakville, Ont.) 2019; (27(1)):78-82 doi:10.1177/2292550318800322.

Classification of Subtypes of Apert Syndrome, Based on the Type of Vault Suture Synostosis.

Lu X, Sawh-Martinez R, Jorge Forte A, et al.

Plastic and reconstructive surgery. Global open 2019; (7(3)):e2158 doi:10.1097/GOX.0000000000002158.

Mandibular dysmorphology due to abnormal embryonic osteogenesis in FGFR2-related craniosynostosis mice.

Motch Perrine SM, Wu M, Stephens NB, et al.

Disease models & mechanisms 2019; (12(5)) doi:10.1242/dmm.038513.

An innovative modified feeding appliance for an infant with cleft lip and cleft palate: A case report.

Naveen BH, Prasad RS, Kashinath KR, et al.

Journal of family medicine and primary care 2019; (8(6)):2134-2136 doi:10.4103/jfmpc.jfmpc_327_19.

Airway Analysis in Apert Syndrome.

Forte AJ, Lu X, Hashim PW, et al.

Plastic and reconstructive surgery 2019; (144(3)):704-709 doi:10.1097/PRS.0000000000005937.

Genetic Polymorphisms in FGFR2 Underlie Skeletal Malocclusion.

Jiang Q, Mei L, Zou Y, et al.

Journal of dental research 2019; (98(12)):1340-1347 doi:10.1177/0022034519872951.

Improvement of Periorbital Appearance in Apert Syndrome After Subcranial Le Fort III With Bipartition and Distraction.

Chetty V, Haber SE, Khonsari RH, Arnaud E

The Journal of craniofacial surgery 2020; (31(3)):711-715 doi:10.1097/SCS.0000000000006233.

Craniofacial, oral, and cervical morphological characteristics in Japanese patients with Apert syndrome or Crouzon syndrome.

Kobayashi Y, Ogura K, Hikita R, et al.

European journal of orthodontics 2021; (43(1)):36-44 doi:10.1093/ejo/cjaa015.

Paternal Age as a Contributing Factor in Apert Syndrome.

Raposo-Amaral CE, Zecchin KG, Denadai R, et al.

The Journal of craniofacial surgery 2020; (31(4)):1167 doi:10.1097/SCS.0000000000006451.

Management of Paronychia in Patients With Apert Syndrome.

Kim JS, Block LM, Zhu X, Davit AJ

Techniques in hand & upper extremity surgery 2020; (25(1)):30-34 doi:10.1097/BTH.0000000000000295.

Apert syndrome: A case report of prenatal ultrasound, postmortem cranial CT, and molecular genetic analysis.

Zhang W, Xue H, Huang D, et al.

Journal of clinical ultrasound : JCU 2021; (49(3)):250-253 doi:10.1002/jcu.22927.

Apert syndrome: Cranial procedures and brain malformations in a series of patients.

Munarriz PM, Pascual B, Castaño-Leon AM, et al.

Surgical neurology international 2020; (11()):361 doi:10.25259/SNI_413_2020.

Slide Tracheoplasty for Tracheal Cartilaginous Sleeve in a Patient With Apert Syndrome.

Darr OA, Stone ML, Mitchell MB, et al.

The Annals of thoracic surgery 2021; (112(6)):e419-e421 doi:10.1016/j.athoracsur.2021.02.048.

Apert Syndrome Outcomes: Comparison of Posterior Vault Distraction Osteogenesis Versus Fronto Orbital Advancement.

Raposo-Amaral CE, Oliveira YM, Raposo-Amaral CA, Ghizoni E

The Journal of craniofacial surgery 2022; (33(1)):66-69 doi:10.1097/SCS.0000000000007959.

Hearing, Speech, Language, and Communicative Participation in Patients With Apert Syndrome: Analysis of Correlation With Fibroblast Growth Factor Receptor 2 Mutation.

Kilcoyne S, Luscombe C, Scully P, et al.

The Journal of craniofacial surgery 2022; (33(1)):243-250 doi:10.1097/SCS.0000000000008019.

Apert Syndrome: An Insight Into Dentofacial Features.

Jose B, Emmatty TB, Methippara JJ, et al.

Cureus 2021; (13(9)):e17735 doi:10.7759/cureus.17735.

Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation.

Singh CB, Mishra B, Patel R, et al.

Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India 2021; (54(3)):370-372 doi:10.1055/s-0041-1733808.

Long-term Management of a Patient with Apert Syndrome.

Horiuchi S, Sato H, Iwasa A, et al.

The journal of contemporary dental practice 2021; (22(10)):1184-1190.

Cleft Palate in Apert Syndrome.

Willie D, Holmes G, Jabs EW, Wu M

Journal of developmental biology 2022; (10(3)) doi:10.3390/jdb10030033.

The Effect of Yes-Associated Protein on the Interaction Between the MEK/Extracellular Signal-Regulated Kinase and Hippo Pathways in Osteoblasts Co-Cultured With Fibroblast Growth Factor Receptor 2-Mutated Dura Cells.

Dong X, Zhang M, Li C, et al.

The Journal of craniofacial surgery 2022; (33(4)):1250-1254 doi:10.1097/SCS.0000000000008115.

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.

Catastrophic and Critical Intraoperative Events during Pediatric Craniofacial Surgery.

Kennedy D, Novak CB, Phillips JH, et al.

Plastic and reconstructive surgery. Global open 2023; (11(1)):e4784 doi:10.1097/GOX.0000000000004784.

Apert Syndrome Type III Hand: Prevalence and Outcomes.

Raposo-Amaral CE, Medeiros LL, Raposo-Amaral CA

The Journal of craniofacial surgery 2023; (34(4)):1170-1173 doi:10.1097/SCS.0000000000009107.

Clinical manifestations of Apert syndrome.

Khan QA, Farkouh C, Uzair M, Ghosh B

Clinical case reports 2023; (11(2)):e6941 doi:10.1002/ccr3.6941.

Genetic Subtypes of Apert Syndrome Are Associated With Differences in Airway Morphology and Early Upper Airway Obstruction.

Wagner CS, Wietlisbach LE, Kota A, et al.

The Journal of craniofacial surgery 2023; (34(7)):1999-2003 doi:10.1097/SCS.0000000000009583.

Outcome of Bilateral Hand Reconstruction in a Child Presenting Late With Apert Syndrome: A Case Report and Literature Review.

Lim B, Shalan M

Cureus 2023; (15(8)):e43641 doi:10.7759/cureus.43641.

Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers.

Kumari K, Saleh I, Taslim S, et al.

Cureus 2023; (15(10)):e47281 doi:10.7759/cureus.47281.

Successful reverse total shoulder replacement in a patient with Apert syndrome.

Burton C, Koong DP, Seagrave K, et al.

Shoulder & elbow 2024; (16(2)):169-172 doi:10.1177/17585732231207365.

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.

Apert syndrome: craniofacial challenges and clinical implications.

Singh N, Verma P, Bains R, Mutalikdesai J

BMJ case reports 2024; (17(7)) doi:10.1136/bcr-2024-260724.

Contemporary Management of the Upper Limb in Apert Syndrome: A Review.

Khabyeh-Hasbani N, Lu YH, Baumgartner W, et al.

Plastic and reconstructive surgery. Global open 2024; (12(8)):e6067 doi:10.1097/GOX.0000000000006067.

A longitudinal study of the role of fingers in the development of early number and arithmetic skills in children with Apert syndrome.

Hilton C

Journal of anatomy 2024; (245(6)):914-929 doi:10.1111/joa.14111.

Tracheal Ultrasound for Diagnosis of Tracheal Cartilaginous Sleeve in Patients with Syndromic Craniosynostosis.

Richardson CM, Lam AS, Nicholas GE, et al.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2025; (172(1)):307-312 doi:10.1002/ohn.967.

Respiratory and craniofacial management in children with Apert syndrome.

Khirani S, Paternoster G, Luscan R, et al.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery 2025; (53(8)):1080-1087 doi:10.1016/j.jcms.2025.03.019.

Optimising anaesthetic management during fronto-orbital advancement in an infant with Apert syndrome.

Florendo GL, Jose GRB

BMJ case reports 2025; (18(9)) doi:10.1136/bcr-2025-266714.

Long-term morphometric and functional outcomes of frontofacial advancement in syndromic craniosynostosis.

Romeo DJ, Akarapimand P, Sussman JH, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2026; (42(1)):45 doi:10.1007/s00381-025-07069-9.

A Case of Complex Syndactyly with Apert Syndrome Treated with a Two-stage Interdigital Reconstruction Using Adipose Flaps.

Kitada A, Yotsuyanagi T, Harada J, et al.

Journal of plastic and reconstructive surgery 2026; (5(1)):27-33 doi:10.53045/jprs.2024-0023.

Early Motor Development and Rehabilitation Outcomes in Apert Syndrome: Gross Motor Function Measures-Case Report.

Oreščanin L, Biloglav Z, Škrlec I

Pathophysiology : the official journal of the International Society for Pathophysiology 2026; (33(1)) doi:10.3390/pathophysiology33010023.