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Orbital craniosynostosis

MedGen UID:
870738
•Concept ID:
C4025192
•
Congenital Abnormality
HPO: HP:0005472

Conditions with this feature

Cole-Carpenter syndrome 1
MedGen UID:
1374755
•Concept ID:
C4317154
•
Disease or Syndrome
Cole-Carpenter syndrome is characterized by bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features (Cole and Carpenter, 1987). Genetic Heterogeneity of Cole-Carpenter Syndrome Cole-Carpenter syndrome-2 (CLCRP2; 616294) is caused by mutation in the SEC24D gene (607186).
See: Condition Record
Cole-Carpenter syndrome 1

Professional guidelines

PubMed

Syndromic Craniosynostosis: Unique Management Considerations.
Hersh DS, Hughes CD
Neurosurg Clin N Am 2022 Jan;33(1):105-112. Epub 2021 Oct 26 doi: 10.1016/j.nec.2021.09.008. PMID: 34801135
Treatment of Syndromic Craniosynostosis by Anterior and Posterior Vault Distraction Osteogenesis (A-PVDO).
Shen W, Cui J, Chen J, Yi J, Kong L, Sun B
J Craniofac Surg 2022 Mar-Apr 01;33(2):654-656. doi: 10.1097/SCS.0000000000008289. PMID: 34690305
Apert syndrome. Diagnosis and treatment of craniostenosis and intracranial anomalies.
Humphreys RP
Clin Plast Surg 1991 Apr;18(2):231-5. PMID: 2065486

Recent clinical studies

Etiology

Ophthalmic Manifestations of Unilateral Coronal Synostosis.
Huynh EM, Elhusseiny AM, Dagi LR
Curr Eye Res 2023 Oct;48(10):879-886. Epub 2023 Jun 29 doi: 10.1080/02713683.2023.2224536. PMID: 37382098
Syndromic Craniosynostosis: Unique Management Considerations.
Hersh DS, Hughes CD
Neurosurg Clin N Am 2022 Jan;33(1):105-112. Epub 2021 Oct 26 doi: 10.1016/j.nec.2021.09.008. PMID: 34801135
Distraction osteogenesis in craniosynostosis.
Sandhaus H, Johnson MD
Curr Opin Otolaryngol Head Neck Surg 2021 Aug 1;29(4):304-313. doi: 10.1097/MOO.0000000000000724. PMID: 34183561
Fronto-Orbital Advancement and Posterior Cranial Vault Expansion Using Distraction Osteogenesis in Patients With Multiple Craniosynostosis.
Kamil M, Oyoshi T, Komasaku S, Kuroki S, Higa N, Yoshimoto K
J Craniofac Surg 2021 Jul-Aug 01;32(5):1882-1885. doi: 10.1097/SCS.0000000000007442. PMID: 33464776
Frontoorbital reconstruction.
Buchman SR, Muraszko K
Atlas Oral Maxillofac Surg Clin North Am 2002 Mar;10(1):43-56. doi: 10.1016/s1061-3315(01)00002-6. PMID: 12087865

Diagnosis

Ophthalmic Manifestations of Unilateral Coronal Synostosis.
Huynh EM, Elhusseiny AM, Dagi LR
Curr Eye Res 2023 Oct;48(10):879-886. Epub 2023 Jun 29 doi: 10.1080/02713683.2023.2224536. PMID: 37382098
Crouzon syndrome and the eye: An overview.
Bhattacharjee K, Rehman O, Venkatraman V, Kikkawa D, Bhattacharjee H, Gogoi R, Grewal AM, Bhattacharjee P
Indian J Ophthalmol 2022 Jul;70(7):2346-2354. doi: 10.4103/ijo.IJO_3207_21. PMID: 35791116Free PMC Article
Syndromic Craniosynostosis: Unique Management Considerations.
Hersh DS, Hughes CD
Neurosurg Clin N Am 2022 Jan;33(1):105-112. Epub 2021 Oct 26 doi: 10.1016/j.nec.2021.09.008. PMID: 34801135
Craniosynostosis and oculomotor disorders.
Dalmas F, Pech-Gourg G, Gallucci A, Denis D, Scavarda D
Neurochirurgie 2020 Apr;66(2):91-96. Epub 2019 Dec 19 doi: 10.1016/j.neuchi.2019.10.010. PMID: 31866515
Strabismus in craniosynostosis.
Lehman S
Curr Opin Ophthalmol 2006 Oct;17(5):432-4. doi: 10.1097/01.icu.0000243017.90004.5b. PMID: 16932059

Therapy

Transfusion-Free Cranial Vault Remodeling: A Novel, Multifaceted Approach.
Wood RJ, Stewart CN, Liljeberg K, Sylvanus TS, Lim PK
Plast Reconstr Surg 2020 Jan;145(1):167-174. doi: 10.1097/PRS.0000000000006323. PMID: 31881619
Perioperative Blood Loss and Transfusion in Craniosynostosis Surgery.
Park C, Wormald J, Miranda BH, Ong J, Hare A, Eccles S
J Craniofac Surg 2018 Jan;29(1):112-115. doi: 10.1097/SCS.0000000000004098. PMID: 29084115
Comparison between piezosurgery and conventional osteotomy in cranioplasty with fronto-orbital advancement.
Martini M, Röhrig A, Reich RH, Messing-Jünger M
J Craniomaxillofac Surg 2017 Mar;45(3):395-400. Epub 2016 Dec 21 doi: 10.1016/j.jcms.2016.12.018. PMID: 28108236
Ophthalmologic Outcomes Following Fronto-Orbital Advancement for Unicoronal Craniosynostosis.
Gencarelli JR, Murphy A, Samargandi OA, Bezuhly M
J Craniofac Surg 2016 Oct;27(7):1629-1635. doi: 10.1097/SCS.0000000000003085. PMID: 27648656
Pseudomeningocele With Orbital Extension as a Complication of Fronto-Orbital Advancement and Remodeling in Craniosynostosis.
Richardson D, Duncan C, Sinha A, Hennedige AA
J Craniofac Surg 2015 Oct;26(7):2142-7. doi: 10.1097/SCS.0000000000001941. PMID: 26413959

Prognosis

Custom-Made Three-Dimensional Models for Craniosynostosis.
Bowen L, Benech R, Shafi A, Gallo P, Kandasamy J, Kaliaperumal C, Campbell DF
J Craniofac Surg 2020 Jan/Feb;31(1):292-293. doi: 10.1097/SCS.0000000000005927. PMID: 31794452
Children with Metopic Ridge.
Hicdonmez T
Turk Neurosurg 2017;27(4):585-589. doi: 10.5137/1019-5149.JTN.16886-15.2. PMID: 27476922
Ophthalmologic Outcomes Following Fronto-Orbital Advancement for Unicoronal Craniosynostosis.
Gencarelli JR, Murphy A, Samargandi OA, Bezuhly M
J Craniofac Surg 2016 Oct;27(7):1629-1635. doi: 10.1097/SCS.0000000000003085. PMID: 27648656
Carpenter syndrome.
Hidestrand P, Vasconez H, Cottrill C
J Craniofac Surg 2009 Jan;20(1):254-6. doi: 10.1097/SCS.0b013e318184357a. PMID: 19165041
Frontoorbital reconstruction.
Buchman SR, Muraszko K
Atlas Oral Maxillofac Surg Clin North Am 2002 Mar;10(1):43-56. doi: 10.1016/s1061-3315(01)00002-6. PMID: 12087865

Clinical prediction guides

Orbital and Periorbital Dysmorphology in Untreated Pfeiffer Syndrome.
Lu X, Forte AJ, Allam O, Park KE, Wilson A, Alperovich M, Steinbacher DM, Tonello C, Alonso N, Persing JA
Plast Reconstr Surg 2022 Apr 1;149(4):731e-742e. doi: 10.1097/PRS.0000000000008928. PMID: 35171849
Orbital Volumetric Analysis in Patients With Unicoronal Craniosynostosis: A Comparison Between Distraction Osteogenesis and Fronto-Orbital Advancement.
McKee RM, Carbullido MK, Ewing E, Kamel GN, Ryan J, Zaldana-Flynn MV, Cronin BJ, Lance SH, Gosman AA
Ann Plast Surg 2021 May 1;86(5S Suppl 3):S367-S373. doi: 10.1097/SAP.0000000000002816. PMID: 33833173
Fronto-Orbital Advancement and Posterior Cranial Vault Expansion Using Distraction Osteogenesis in Patients With Multiple Craniosynostosis.
Kamil M, Oyoshi T, Komasaku S, Kuroki S, Higa N, Yoshimoto K
J Craniofac Surg 2021 Jul-Aug 01;32(5):1882-1885. doi: 10.1097/SCS.0000000000007442. PMID: 33464776
Custom-Made Three-Dimensional Models for Craniosynostosis.
Bowen L, Benech R, Shafi A, Gallo P, Kandasamy J, Kaliaperumal C, Campbell DF
J Craniofac Surg 2020 Jan/Feb;31(1):292-293. doi: 10.1097/SCS.0000000000005927. PMID: 31794452
Frontoorbital reconstruction.
Buchman SR, Muraszko K
Atlas Oral Maxillofac Surg Clin North Am 2002 Mar;10(1):43-56. doi: 10.1016/s1061-3315(01)00002-6. PMID: 12087865

Recent systematic reviews

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, Reynolds R, Ruiz R, Markiewicz MR
J Oral Maxillofac Surg 2022 Apr;80(4):651-661. Epub 2021 Nov 13 doi: 10.1016/j.joms.2021.10.022. PMID: 34863645
Craniofacial Distraction in the Management of Anterior Plagiocephaly: A Novel Idea and a Systematic Review of the Literature.
Elbanoby T
Pediatr Neurosurg 2018;53(3):193-199. Epub 2018 Feb 7 doi: 10.1159/000486202. PMID: 29408824
Intracranial hypertension after surgical correction for craniosynostosis: a systematic review.
Christian EA, Imahiyerobo TA, Nallapa S, Urata M, McComb JG, Krieger MD
Neurosurg Focus 2015 May;38(5):E6. doi: 10.3171/2015.2.FOCUS14853. PMID: 25929968

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