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Familial scaphocephaly syndrome

MedGen UID:
797875
Concept ID:
C3267076
Disease or Syndrome
Synonym: familial scaphocephaly syndrome
 
Monarch Initiative: MONDO:0015704
Orphanet: ORPHA169163

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial scaphocephaly syndrome
Follow this link to review classifications for Familial scaphocephaly syndrome in Orphanet.

Professional guidelines

PubMed

Garcia-Rodriguez R, Rodriguez-Rodriguez R, Garcia-Delgado R, Romero-Requejo A, Medina-Castellano M, Garcia Cruz L, Santana Rodriguez A, Garcia-Hernandez JA
J Matern Fetal Neonatal Med 2022 Jun;35(11):2162-2165. Epub 2020 Jun 4 doi: 10.1080/14767058.2020.1774541. PMID: 32495660
Buers I, Persico I, Schöning L, Nitschke Y, Di Rocco M, Loi A, Sahi PK, Utine GE, Bayraktar-Tanyeri B, Zampino G, Crisponi G, Rutsch F, Crisponi L
Clin Genet 2020 Jan;97(1):209-221. Epub 2019 Sep 16 doi: 10.1111/cge.13639. PMID: 31497877
Saal HM
Facial Plast Surg Clin North Am 2016 Nov;24(4):405-425. doi: 10.1016/j.fsc.2016.06.001. PMID: 27712809

Recent clinical studies

Etiology

Al Kaissi A, Hilmi M, Betadolova Z, Bouchoucha S, Trofimova S, Shboul M, Rustamov G, Dwera W, Sigl K, Kenis V, Kircher SG
Afr J Paediatr Surg 2021 Oct-Dec;18(4):224-230. doi: 10.4103/ajps.AJPS_162_20. PMID: 34341308Free PMC Article
Murali CN, McDonald-McGinn DM, Wenger TL, McDougall C, Stroup BM, Sheppard SE, Taylor J, Bartlett SP, Bhoj EJ, Zackai EH, Santani A
Am J Med Genet A 2019 Aug;179(8):1442-1450. Epub 2019 May 20 doi: 10.1002/ajmg.a.61199. PMID: 31111620Free PMC Article
Timberlake AT, Persing JA
Plast Reconstr Surg 2018 Jun;141(6):1508-1516. doi: 10.1097/PRS.0000000000004374. PMID: 29579021
Governale LS
Pediatr Neurol 2015 Nov;53(5):394-401. Epub 2015 Jul 22 doi: 10.1016/j.pediatrneurol.2015.07.006. PMID: 26371995
Collmann H, Sörensen N, Krauss J
Childs Nerv Syst 1996 Nov;12(11):664-8. doi: 10.1007/BF00366148. PMID: 9118128

Diagnosis

Buers I, Persico I, Schöning L, Nitschke Y, Di Rocco M, Loi A, Sahi PK, Utine GE, Bayraktar-Tanyeri B, Zampino G, Crisponi G, Rutsch F, Crisponi L
Clin Genet 2020 Jan;97(1):209-221. Epub 2019 Sep 16 doi: 10.1111/cge.13639. PMID: 31497877
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697
Saal HM
Facial Plast Surg Clin North Am 2016 Nov;24(4):405-425. doi: 10.1016/j.fsc.2016.06.001. PMID: 27712809
Governale LS
Pediatr Neurol 2015 Nov;53(5):394-401. Epub 2015 Jul 22 doi: 10.1016/j.pediatrneurol.2015.07.006. PMID: 26371995
Buchanan EP, Xue AS, Hollier LH Jr
Plast Reconstr Surg 2014 Jul;134(1):128e-153e. doi: 10.1097/PRS.0000000000000308. PMID: 25028828

Therapy

Mocquard C, Aillet S, Riffaud L
Neurochirurgie 2019 Nov;65(5):246-251. Epub 2019 Sep 27 doi: 10.1016/j.neuchi.2019.09.014. PMID: 31568780
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
Maher GJ, Goriely A, Wilkie AO
Andrology 2014 May;2(3):304-14. Epub 2013 Dec 19 doi: 10.1111/j.2047-2927.2013.00175.x. PMID: 24357637
Makarov R, Steiner B, Gucev Z, Tasic V, Wieacker P, Wieland I
BMC Med Genet 2010 Jun 17;11:98. doi: 10.1186/1471-2350-11-98. PMID: 20565770Free PMC Article
Matsumoto K, Nakanishi H, Kubo Y, Yokozeki M, Moriyama K
J Med Invest 2003 Aug;50(3-4):117-25. PMID: 13678380

Prognosis

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
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697
Timberlake AT, Persing JA
Plast Reconstr Surg 2018 Jun;141(6):1508-1516. doi: 10.1097/PRS.0000000000004374. PMID: 29579021
Maher GJ, Goriely A, Wilkie AO
Andrology 2014 May;2(3):304-14. Epub 2013 Dec 19 doi: 10.1111/j.2047-2927.2013.00175.x. PMID: 24357637
Collmann H, Sörensen N, Krauss J
Childs Nerv Syst 1996 Nov;12(11):664-8. doi: 10.1007/BF00366148. PMID: 9118128

Clinical prediction guides

Mocquard C, Aillet S, Riffaud L
Neurochirurgie 2019 Nov;65(5):246-251. Epub 2019 Sep 27 doi: 10.1016/j.neuchi.2019.09.014. PMID: 31568780
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
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697
Timberlake AT, Persing JA
Plast Reconstr Surg 2018 Jun;141(6):1508-1516. doi: 10.1097/PRS.0000000000004374. PMID: 29579021
Collmann H, Sörensen N, Krauss J
Childs Nerv Syst 1996 Nov;12(11):664-8. doi: 10.1007/BF00366148. PMID: 9118128

Recent systematic reviews

Buijs PCM, Bassett AS, Boot E
Am J Med Genet A 2018 Aug;176(8):1742-1747. Epub 2018 Jan 24 doi: 10.1002/ajmg.a.38612. PMID: 29363845Free PMC Article

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