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Syndromic craniosynostosis

MedGen UID:
1842203
Concept ID:
C5680624
Disease or Syndrome
Synonyms: syndrome associated with craniosynostosis; syndromic craniosynostosis
 
Monarch Initiative: MONDO:0015338
Orphanet: ORPHA139393

Definition

A craniosynostosis that is part of a larger syndrome. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Syndromic craniosynostosis

Professional guidelines

PubMed

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
Casteleyn T, Horn D, Henrich W, Verlohren S
Arch Gynecol Obstet 2022 Jul;306(1):49-57. Epub 2021 Oct 11 doi: 10.1007/s00404-021-06263-9. PMID: 34633507Free PMC Article
Touzé R, Bremond-Gignac D, Robert MP
Neurochirurgie 2019 Nov;65(5):310-317. Epub 2019 Sep 28 doi: 10.1016/j.neuchi.2019.09.016. PMID: 31574284

Recent clinical studies

Etiology

Fearon JA, Barrientos S, Ditthakasem K, Herbert M
Plast Reconstr Surg 2022 Aug 1;150(2):381e-386e. Epub 2022 Jun 8 doi: 10.1097/PRS.0000000000009367. PMID: 35671456
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
Frassanito P, Palombi D, Tamburrini G
Childs Nerv Syst 2021 Nov;37(11):3465-3473. Epub 2021 Apr 7 doi: 10.1007/s00381-021-05158-z. PMID: 33829280
Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA
Semin Pediatr Neurol 2007 Sep;14(3):150-61. doi: 10.1016/j.spen.2007.08.008. PMID: 17980312
Boyadjiev SA; International Craniosynostosis Consortium
Orthod Craniofac Res 2007 Aug;10(3):129-37. doi: 10.1111/j.1601-6343.2007.00393.x. PMID: 17651129

Diagnosis

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
Touzé R, Bremond-Gignac D, Robert MP
Neurochirurgie 2019 Nov;65(5):310-317. Epub 2019 Sep 28 doi: 10.1016/j.neuchi.2019.09.016. PMID: 31574284
Wang JC, Nagy L, Demke JC
Facial Plast Surg Clin North Am 2016 Nov;24(4):531-543. doi: 10.1016/j.fsc.2016.06.008. PMID: 27712819
Nagy L, Demke JC
Facial Plast Surg Clin North Am 2014 Nov;22(4):523-48. Epub 2014 Nov 8 doi: 10.1016/j.fsc.2014.08.002. PMID: 25444726
Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA
Semin Pediatr Neurol 2007 Sep;14(3):150-61. doi: 10.1016/j.spen.2007.08.008. PMID: 17980312

Therapy

Frassanito P, Palombi D, Tamburrini G
Childs Nerv Syst 2021 Nov;37(11):3465-3473. Epub 2021 Apr 7 doi: 10.1007/s00381-021-05158-z. PMID: 33829280
den Ottelander BK, de Goederen R, de Planque CA, Baart SJ, van Veelen MLC, Corel LJA, Joosten KFM, Mathijssen IMJ, Dremmen MHG
AJNR Am J Neuroradiol 2021 Jan;42(1):201-205. Epub 2020 Dec 3 doi: 10.3174/ajnr.A6881. PMID: 33272949Free PMC Article
Sawh-Martinez R, Steinbacher DM
Clin Plast Surg 2019 Apr;46(2):141-155. doi: 10.1016/j.cps.2018.11.009. PMID: 30851747
Dempsey RF, Monson LA, Maricevich RS, Truong TA, Olarunnipa S, Lam SK, Dauser RC, Hollier LH Jr, Buchanan EP
Clin Plast Surg 2019 Apr;46(2):123-139. Epub 2019 Jan 30 doi: 10.1016/j.cps.2018.11.001. PMID: 30851746
Greives MR, Ware BW, Tian AG, Taylor JA, Pollack IF, Losee JE
Ann Plast Surg 2016 Feb;76(2):211-5. doi: 10.1097/SAP.0000000000000518. PMID: 25954848

Prognosis

Fearon JA, Barrientos S, Ditthakasem K, Herbert M
Plast Reconstr Surg 2022 Aug 1;150(2):381e-386e. Epub 2022 Jun 8 doi: 10.1097/PRS.0000000000009367. PMID: 35671456
Tarnow P, Kölby L, Maltese G, Söfteland MB, Lewén A, Nilsson P, Enblad P, Nowinski D
J Craniofac Surg 2022 Jul-Aug 01;33(5):1517-1520. Epub 2022 Jan 12 doi: 10.1097/SCS.0000000000008457. PMID: 35025825
Dempsey RF, Monson LA, Maricevich RS, Truong TA, Olarunnipa S, Lam SK, Dauser RC, Hollier LH Jr, Buchanan EP
Clin Plast Surg 2019 Apr;46(2):123-139. Epub 2019 Jan 30 doi: 10.1016/j.cps.2018.11.001. PMID: 30851746
Nur BG, Pehlivanoğlu S, Mıhçı E, Calışkan M, Demir D, Alper OM, Kayserili H, Lüleci G
Pediatr Neurol 2014 May;50(5):482-90. Epub 2014 Jan 11 doi: 10.1016/j.pediatrneurol.2014.01.023. PMID: 24656465
Ursitti F, Fadda T, Papetti L, Pagnoni M, Nicita F, Iannetti G, Spalice A
Acta Paediatr 2011 Sep;100(9):1185-94. Epub 2011 May 5 doi: 10.1111/j.1651-2227.2011.02299.x. PMID: 21457300

Clinical prediction guides

Yapijakis C, Pachis N, Sotiriadou T, Vaila C, Michopoulou V, Vassiliou S
In Vivo 2023 Jan-Feb;37(1):36-46. doi: 10.21873/invivo.13052. PMID: 36593018Free PMC Article
Fearon JA, Barrientos S, Ditthakasem K, Herbert M
Plast Reconstr Surg 2022 Aug 1;150(2):381e-386e. Epub 2022 Jun 8 doi: 10.1097/PRS.0000000000009367. PMID: 35671456
Dempsey RF, Monson LA, Maricevich RS, Truong TA, Olarunnipa S, Lam SK, Dauser RC, Hollier LH Jr, Buchanan EP
Clin Plast Surg 2019 Apr;46(2):123-139. Epub 2019 Jan 30 doi: 10.1016/j.cps.2018.11.001. PMID: 30851746
Garrocho-Rangel A, Manriquez-Olmos L, Flores-Velazquez J, Rosales-Berber MA, Martinez-Rider R, Pozos-Guillen A
Med Oral Patol Oral Cir Bucal 2018 Jul 1;23(4):e421-e428. doi: 10.4317/medoral.22328. PMID: 29924758Free PMC Article
Cinalli G, Sainte-Rose C, Kollar EM, Zerah M, Brunelle F, Chumas P, Arnaud E, Marchac D, Pierre-Kahn A, Renier D
J Neurosurg 1998 Feb;88(2):209-14. doi: 10.3171/jns.1998.88.2.0209. PMID: 9452225

Recent systematic reviews

Albaugh SL, Diaz A, Wang E, Shen TC, Williams L, He TC, Reid RR
Plast Reconstr Surg 2024 Feb 1;153(2):383e-396e. Epub 2023 Apr 18 doi: 10.1097/PRS.0000000000010522. PMID: 37070824
Park KM, Tripathi NV, Mufarrej FA
Int J Pediatr Otorhinolaryngol 2021 Oct;149:110873. Epub 2021 Aug 6 doi: 10.1016/j.ijporl.2021.110873. PMID: 34380097
Bertrand AA, Lipman KJ, Bradley JP, Reidhead J, Lee JC
Plast Reconstr Surg 2019 Nov;144(5):1125-1134. doi: 10.1097/PRS.0000000000006164. PMID: 31385890
Saengthong P, Chaitusaney B, Hirunwiwatkul P, Charakorn N
Eur Arch Otorhinolaryngol 2019 Jun;276(6):1555-1560. Epub 2019 Apr 17 doi: 10.1007/s00405-019-05427-3. PMID: 30997567
Kim SY, Shin HJ, Lim SY
J Craniomaxillofac Surg 2017 Nov;45(11):1801-1808. Epub 2017 Aug 19 doi: 10.1016/j.jcms.2017.08.009. PMID: 28939204

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