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Non-syndromic multisutural craniosynostosis

MedGen UID:
1843294
•Concept ID:
C5680397
•
Disease or Syndrome
Synonyms: Isolated multisutural craniosynostosis; Non-syndromic multiple suture synostosis; non-syndromic multisutural craniosynostosis
 
Monarch Initiative: MONDO:0850077
Orphanet: ORPHA620152

Professional guidelines

PubMed

Practical Algorithm for the Management of Multisutural Craniosynostosis with Associated Chiari Malformation and/or Hydrocephalus.
Aruta G, Fiaschi P, Ceraudo M, Piatelli G, Capra V, Bianconi A, Rossi A, Secci F, Pavanello M
Pediatr Neurosurg 2023;58(2):67-79. Epub 2023 Jan 31 doi: 10.1159/000529129. PMID: 36720214

Recent clinical studies

Etiology

Prevalence of craniosynostosis in Finland, 1987-2010: A population-based study.
Vuola P, Pakkasjärvi N, Ritvanen A, Heliövaara A, Tukiainen E, Gissler M
Birth Defects Res 2024 Feb;116(2):e2319. doi: 10.1002/bdr2.2319. PMID: 38348760
Oxycephaly-systematic review, case presentation, and diagnostic clarification.
Pontell ME, Barrero CE, Wagner CS, Salinero LK, Swanson JW, Taylor JA, Bartlett SP
Childs Nerv Syst 2023 Nov;39(11):3041-3049. Epub 2023 Jul 26 doi: 10.1007/s00381-023-06048-2. PMID: 37493719
Practical Algorithm for the Management of Multisutural Craniosynostosis with Associated Chiari Malformation and/or Hydrocephalus.
Aruta G, Fiaschi P, Ceraudo M, Piatelli G, Capra V, Bianconi A, Rossi A, Secci F, Pavanello M
Pediatr Neurosurg 2023;58(2):67-79. Epub 2023 Jan 31 doi: 10.1159/000529129. PMID: 36720214
Incidence of delayed intracranial hypertension in children with isolated sagittal synostosis following open calvarial vault reconstruction.
McClugage SG 3rd, Lepard JR, Ray PD, Grant JH 3rd, Blount JP, Rozzelle CJ, Johnston JM
Childs Nerv Syst 2020 Mar;36(3):545-550. Epub 2019 Dec 5 doi: 10.1007/s00381-019-04406-7. PMID: 31811369
Surgical treatment of isolated and syndromic craniosynostosis. Results and complications in 283 consecutive cases.
Esparza J, Hinojosa J, García-Recuero I, Romance A, Pascual B, Martínez de Aragón A
Neurocirugia (Astur) 2008 Dec;19(6):509-29. doi: 10.1016/s1130-1473(08)70201-x. PMID: 19112545

Diagnosis

Prevalence of craniosynostosis in Finland, 1987-2010: A population-based study.
Vuola P, Pakkasjärvi N, Ritvanen A, Heliövaara A, Tukiainen E, Gissler M
Birth Defects Res 2024 Feb;116(2):e2319. doi: 10.1002/bdr2.2319. PMID: 38348760
Oxycephaly-systematic review, case presentation, and diagnostic clarification.
Pontell ME, Barrero CE, Wagner CS, Salinero LK, Swanson JW, Taylor JA, Bartlett SP
Childs Nerv Syst 2023 Nov;39(11):3041-3049. Epub 2023 Jul 26 doi: 10.1007/s00381-023-06048-2. PMID: 37493719
Skull base development and craniosynostosis.
Blaser SI, Padfield N, Chitayat D, Forrest CR
Pediatr Radiol 2015 Sep;45 Suppl 3:S485-96. Epub 2015 Sep 7 doi: 10.1007/s00247-015-3320-1. PMID: 26346154
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
Paumard-Hernández B, Berges-Soria J, Barroso E, Rivera-Pedroza CI, Pérez-Carrizosa V, Benito-Sanz S, López-Messa E, Santos F, García-Recuero II, Romance A, Ballesta-Martínez JM, López-González V, Campos-Barros Á, Cruz J, Guillén-Navarro E, Sánchez Del Pozo J, Lapunzina P, García-Miñaur S, Heath KE
Eur J Hum Genet 2015 Jul;23(7):907-14. Epub 2014 Oct 1 doi: 10.1038/ejhg.2014.205. PMID: 25271085Free PMC Article
Surgical treatment of isolated and syndromic craniosynostosis. Results and complications in 283 consecutive cases.
Esparza J, Hinojosa J, García-Recuero I, Romance A, Pascual B, Martínez de Aragón A
Neurocirugia (Astur) 2008 Dec;19(6):509-29. doi: 10.1016/s1130-1473(08)70201-x. PMID: 19112545

Therapy

Surgical treatment of isolated and syndromic craniosynostosis. Results and complications in 283 consecutive cases.
Esparza J, Hinojosa J, García-Recuero I, Romance A, Pascual B, Martínez de Aragón A
Neurocirugia (Astur) 2008 Dec;19(6):509-29. doi: 10.1016/s1130-1473(08)70201-x. PMID: 19112545

Prognosis

Incidence of delayed intracranial hypertension in children with isolated sagittal synostosis following open calvarial vault reconstruction.
McClugage SG 3rd, Lepard JR, Ray PD, Grant JH 3rd, Blount JP, Rozzelle CJ, Johnston JM
Childs Nerv Syst 2020 Mar;36(3):545-550. Epub 2019 Dec 5 doi: 10.1007/s00381-019-04406-7. PMID: 31811369
Skull base development and craniosynostosis.
Blaser SI, Padfield N, Chitayat D, Forrest CR
Pediatr Radiol 2015 Sep;45 Suppl 3:S485-96. Epub 2015 Sep 7 doi: 10.1007/s00247-015-3320-1. PMID: 26346154

Clinical prediction guides

Skull base development and craniosynostosis.
Blaser SI, Padfield N, Chitayat D, Forrest CR
Pediatr Radiol 2015 Sep;45 Suppl 3:S485-96. Epub 2015 Sep 7 doi: 10.1007/s00247-015-3320-1. PMID: 26346154
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
Paumard-Hernández B, Berges-Soria J, Barroso E, Rivera-Pedroza CI, Pérez-Carrizosa V, Benito-Sanz S, López-Messa E, Santos F, García-Recuero II, Romance A, Ballesta-Martínez JM, López-González V, Campos-Barros Á, Cruz J, Guillén-Navarro E, Sánchez Del Pozo J, Lapunzina P, García-Miñaur S, Heath KE
Eur J Hum Genet 2015 Jul;23(7):907-14. Epub 2014 Oct 1 doi: 10.1038/ejhg.2014.205. PMID: 25271085Free PMC Article

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