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Craniosynostosis, nonspecific

MedGen UID:
893713
•Concept ID:
CN239568
•
Disease or Syndrome

Professional guidelines

PubMed

Healthcare resource utilization in the management of hypophosphatasia in three patients displaying a spectrum of manifestations.
Daniel AB, Saraff V, Shaw NJ, Yates R, Mughal MZ, Padidela R
Orphanet J Rare Dis 2018 Aug 16;13(1):142. doi: 10.1186/s13023-018-0869-4. PMID: 30115096Free PMC Article

Recent clinical studies

Etiology

Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children.
Vogt M, Girschick H, Schweitzer T, Benoit C, Holl-Wieden A, Seefried L, Jakob F, Hofmann C
Orphanet J Rare Dis 2020 Aug 18;15(1):212. doi: 10.1186/s13023-020-01500-x. PMID: 32811521Free PMC Article
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.
Whyte MP, Zhang F, Wenkert D, McAlister WH, Mack KE, Benigno MC, Coburn SP, Wagy S, Griffin DM, Ericson KL, Mumm S
Bone 2015 Jun;75:229-39. Epub 2015 Feb 27 doi: 10.1016/j.bone.2015.02.022. PMID: 25731960
Molecular diagnosis of bilateral coronal synostosis.
Mulliken JB, Steinberger D, Kunze S, Müller U
Plast Reconstr Surg 1999 Nov;104(6):1603-15. doi: 10.1097/00006534-199911000-00001. PMID: 10541159
Craniofrontonasal dysplasia in a three-generation kindred.
Reynolds JF, Haas RJ, Edgerton MT, Kelly TE
J Craniofac Genet Dev Biol 1982;2(3):233-8. PMID: 7166597

Diagnosis

Imaging patterns in pediatric hypophosphatasia.
Mannes I, Rothenbuhler A, Merzoug V, Di Rocco F, Linglart A, Adamsbaum C
Pediatr Radiol 2022 May;52(5):998-1006. Epub 2021 Dec 2 doi: 10.1007/s00247-021-05232-3. PMID: 34854966
Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings.
Guibaud L, Collardeau-Frachon S, Lacalm A, Massoud M, Rossi M, Cordier MP, Vianey-Saban C
J Inherit Metab Dis 2017 Jan;40(1):103-112. Epub 2016 Nov 16 doi: 10.1007/s10545-016-9992-3. PMID: 27853988
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.
Whyte MP, Zhang F, Wenkert D, McAlister WH, Mack KE, Benigno MC, Coburn SP, Wagy S, Griffin DM, Ericson KL, Mumm S
Bone 2015 Jun;75:229-39. Epub 2015 Feb 27 doi: 10.1016/j.bone.2015.02.022. PMID: 25731960
Surgical correction for unilateral lambdoid synostosis: a systematic review.
Al-Jabri T, Eccles S
J Craniofac Surg 2014 Jul;25(4):1266-72. doi: 10.1097/SCS.0000000000000961. PMID: 24978452
Hypophosphatasia.
Mornet E
Orphanet J Rare Dis 2007 Oct 4;2:40. doi: 10.1186/1750-1172-2-40. PMID: 17916236Free PMC Article

Therapy

Imaging patterns in pediatric hypophosphatasia.
Mannes I, Rothenbuhler A, Merzoug V, Di Rocco F, Linglart A, Adamsbaum C
Pediatr Radiol 2022 May;52(5):998-1006. Epub 2021 Dec 2 doi: 10.1007/s00247-021-05232-3. PMID: 34854966
Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children.
Vogt M, Girschick H, Schweitzer T, Benoit C, Holl-Wieden A, Seefried L, Jakob F, Hofmann C
Orphanet J Rare Dis 2020 Aug 18;15(1):212. doi: 10.1186/s13023-020-01500-x. PMID: 32811521Free PMC Article
Enzyme-replacement therapy in perinatal hypophosphatasia: Case report and review of the literature.
Rougier H, Desrumaux A, Bouchon N, Wroblewski I, Pin I, Nugues F, Mornet E, Baujat G
Arch Pediatr 2018 Oct;25(7):442-447. Epub 2018 Sep 21 doi: 10.1016/j.arcped.2018.08.002. PMID: 30249491
Healthcare resource utilization in the management of hypophosphatasia in three patients displaying a spectrum of manifestations.
Daniel AB, Saraff V, Shaw NJ, Yates R, Mughal MZ, Padidela R
Orphanet J Rare Dis 2018 Aug 16;13(1):142. doi: 10.1186/s13023-018-0869-4. PMID: 30115096Free PMC Article
Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series.
Kosnik-Infinger L, Gendron C, Gordon CB, Pan BS, van Aalst JA, Vogel TW
Neurosurg Focus 2015 May;38(5):E10. doi: 10.3171/2015.2.FOCUS14847. PMID: 25929963

Prognosis

Enzyme-replacement therapy in perinatal hypophosphatasia: Case report and review of the literature.
Rougier H, Desrumaux A, Bouchon N, Wroblewski I, Pin I, Nugues F, Mornet E, Baujat G
Arch Pediatr 2018 Oct;25(7):442-447. Epub 2018 Sep 21 doi: 10.1016/j.arcped.2018.08.002. PMID: 30249491
Clinical Forms and Animal Models of Hypophosphatasia.
Salles JP
Subcell Biochem 2015;76:3-24. doi: 10.1007/978-94-017-7197-9_1. PMID: 26219704
Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series.
Kosnik-Infinger L, Gendron C, Gordon CB, Pan BS, van Aalst JA, Vogel TW
Neurosurg Focus 2015 May;38(5):E10. doi: 10.3171/2015.2.FOCUS14847. PMID: 25929963
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.
Whyte MP, Zhang F, Wenkert D, McAlister WH, Mack KE, Benigno MC, Coburn SP, Wagy S, Griffin DM, Ericson KL, Mumm S
Bone 2015 Jun;75:229-39. Epub 2015 Feb 27 doi: 10.1016/j.bone.2015.02.022. PMID: 25731960
Hypophosphatasia.
Mornet E
Orphanet J Rare Dis 2007 Oct 4;2:40. doi: 10.1186/1750-1172-2-40. PMID: 17916236Free PMC Article

Clinical prediction guides

Safety, pharmacokinetics, and pharmacodynamics of efzimfotase alfa, a second-generation enzyme replacement therapy: phase 1, dose-escalation study in adults with hypophosphatasia.
Dahir KM, Shannon A, Dunn D, Voegtli W, Dong Q, Hasan J, Pradhan R, Pelto R, Pan WJ
J Bone Miner Res 2024 Sep 26;39(10):1412-1423. doi: 10.1093/jbmr/zjae128. PMID: 39135540Free PMC Article
Tissue-Nonspecific Alkaline Phosphatase-A Gatekeeper of Physiological Conditions in Health and a Modulator of Biological Environments in Disease.
Liedtke D, Hofmann C, Jakob F, Klopocki E, Graser S
Biomolecules 2020 Dec 8;10(12) doi: 10.3390/biom10121648. PMID: 33302551Free PMC Article
MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.
Yamamoto T, Shimojima K, Ondo Y, Shimakawa S, Okamoto N
Am J Med Genet A 2017 May;173(5):1264-1269. Epub 2017 Mar 29 doi: 10.1002/ajmg.a.38168. PMID: 28371282
Duration of exposure to cranial vault surgery: associations with neurodevelopment among children with single-suture craniosynostosis.
Naumann HL, Haberkern CM, Pietila KE, Birgfeld CB, Starr JR, Kapp-Simon KA, Hopper RA, Speltz ML
Paediatr Anaesth 2012 Nov;22(11):1053-61. doi: 10.1111/j.1460-9592.2012.03843.x. PMID: 22502768Free PMC Article
Molecular diagnosis of bilateral coronal synostosis.
Mulliken JB, Steinberger D, Kunze S, Müller U
Plast Reconstr Surg 1999 Nov;104(6):1603-15. doi: 10.1097/00006534-199911000-00001. PMID: 10541159

Recent systematic reviews

Surgical correction for unilateral lambdoid synostosis: a systematic review.
Al-Jabri T, Eccles S
J Craniofac Surg 2014 Jul;25(4):1266-72. doi: 10.1097/SCS.0000000000000961. PMID: 24978452

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