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Abnormal calvaria morphology

MedGen UID:
871212
Concept ID:
C4025691
Anatomical Abnormality
Synonyms: Abnormality of calvarial morphology; Abnormality of the calvaria
 
HPO: HP:0002683

Definition

Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. [from HPO]

Conditions with this feature

Greig cephalopolysyndactyly syndrome
MedGen UID:
120531
Concept ID:
C0265306
Congenital Abnormality
Typical Greig cephalopolysyndactyly syndrome (GCPS) is characterized by macrocephaly, widely spaced eyes associated with increased interpupillary distance, preaxial polydactyly with or without postaxial polydactyly, and cutaneous syndactyly. Developmental delay, intellectual disability, or seizures appear to be uncommon manifestations (~<10%) of GCPS and may be more common in individuals with large (>300-kb) deletions that encompass GLI3. Approximately 20% of individuals with GCPS have hypoplasia or agenesis of the corpus callosum.
Yunis-Varon syndrome
MedGen UID:
341818
Concept ID:
C1857663
Disease or Syndrome
Yunis-Varon syndrome (YVS) is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

Professional guidelines

PubMed

Rosenblum JS, Pomeraniec IJ, Heiss JD
Neurol Clin 2022 May;40(2):297-307. Epub 2022 Mar 31 doi: 10.1016/j.ncl.2021.11.007. PMID: 35465876Free PMC Article
Kajdic N, Spazzapan P, Velnar T
Bosn J Basic Med Sci 2018 May 20;18(2):110-116. doi: 10.17305/bjbms.2017.2083. PMID: 28623672Free PMC Article
Al-Ani AH, Antoun JS, Thomson WM, Merriman TR, Farella M
Biomed Res Int 2017;2017:9378325. Epub 2017 Mar 19 doi: 10.1155/2017/9378325. PMID: 28401166Free PMC Article

Recent clinical studies

Etiology

Linz C, Kunz F, Böhm H, Schweitzer T
Dtsch Arztebl Int 2017 Aug 7;114(31-32):535-542. doi: 10.3238/arztebl.2017.0535. PMID: 28835328Free PMC Article
Bosemani T, Orman G, Boltshauser E, Tekes A, Huisman TA, Poretti A
Radiographics 2015 Jan-Feb;35(1):200-20. doi: 10.1148/rg.351140038. PMID: 25590398
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938
Allanson JE, Cunniff C, Hoyme HE, McGaughran J, Muenke M, Neri G
Am J Med Genet A 2009 Jan;149A(1):6-28. doi: 10.1002/ajmg.a.32612. PMID: 19125436Free PMC Article
David DJ, Menard RM
Br J Plast Surg 2000 Jul;53(5):367-77. doi: 10.1054/bjps.2000.3329. PMID: 10876272

Diagnosis

Markovic I, Bosnjakovic P, Milenkovic Z
Curr Pediatr Rev 2020;16(3):200-205. doi: 10.2174/1573396315666191018161535. PMID: 31656152Free PMC Article
Kajdic N, Spazzapan P, Velnar T
Bosn J Basic Med Sci 2018 May 20;18(2):110-116. doi: 10.17305/bjbms.2017.2083. PMID: 28623672Free PMC Article
Hawasli AH, Beaumont TL, Vogel TW, Woo AS, Leonard JR
J Neurosurg Pediatr 2014 Aug;14(2):200-2. Epub 2014 Jun 13 doi: 10.3171/2014.5.PEDS13688. PMID: 24926969
Kiesler J, Ricer R
Am Fam Physician 2003 Jun 15;67(12):2547-52. PMID: 12825844
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

Therapy

Liles SI, C Hoppe I, Arnold L
Cleft Palate Craniofac J 2023 Dec;60(12):1665-1673. Epub 2022 Jul 12 doi: 10.1177/10556656221113891. PMID: 35821585
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
van Wijk RM, van Vlimmeren LA, Groothuis-Oudshoorn CG, Van der Ploeg CP, Ijzerman MJ, Boere-Boonekamp MM
BMJ 2014 May 1;348:g2741. doi: 10.1136/bmj.g2741. PMID: 24784879Free PMC Article
Guyuron B
Plast Reconstr Surg 2008 Apr;121(4 Suppl):1-7. doi: 10.1097/01.prs.0000305931.98111.c3. PMID: 18379385

Prognosis

Markovic I, Bosnjakovic P, Milenkovic Z
Curr Pediatr Rev 2020;16(3):200-205. doi: 10.2174/1573396315666191018161535. PMID: 31656152Free PMC Article
Verano JW
Int J Paleopathol 2017 Dec;19:111-118. Epub 2017 Mar 28 doi: 10.1016/j.ijpp.2017.03.004. PMID: 29198392
Esen E, Bayar Muluk N, Altintoprak N, Ipci K, Cingi C
J Laryngol Otol 2017 Jun;131(6):476-479. Epub 2017 Feb 27 doi: 10.1017/S0022215117000391. PMID: 28238296
Tubbs RS, Blount JP
Pediatr Neurosurg 2004 Mar-Apr;40(2):95-6. doi: 10.1159/000078919. PMID: 15292644
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

Clinical prediction guides

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
Verano JW
Int J Paleopathol 2017 Dec;19:111-118. Epub 2017 Mar 28 doi: 10.1016/j.ijpp.2017.03.004. PMID: 29198392
Alwadei S
J Contemp Dent Pract 2017 Mar 1;18(3):250-256. PMID: 28258274
van Wijk RM, van Vlimmeren LA, Groothuis-Oudshoorn CG, Van der Ploeg CP, Ijzerman MJ, Boere-Boonekamp MM
BMJ 2014 May 1;348:g2741. doi: 10.1136/bmj.g2741. PMID: 24784879Free PMC Article
Kapusta L, Brunner HG, Hamel BC
Eur J Pediatr 1992 Nov;151(11):837-41. doi: 10.1007/BF01957936. PMID: 1468459

Recent systematic reviews

Kämmerer PW, Fan S, Aparicio C, Bedrossian E, Davó R, Morton D, Raghoebar GM, Zarrine S, Al-Nawas B
Int J Implant Dent 2023 May 17;9(1):11. doi: 10.1186/s40729-023-00478-y. PMID: 37198345Free PMC Article
Lafuente-Ibáñez de Mendoza I, Aguirre-Urizar JM, Villatoro-Ugalde V, Magaña-Quiñones JJ, Lana-Ojeda J, Mosqueda-Taylor A
Oral Dis 2022 May;28(4):1198-1206. Epub 2021 Mar 21 doi: 10.1111/odi.13834. PMID: 33682271
Detsky ME, Jivraj N, Adhikari NK, Friedrich JO, Pinto R, Simel DL, Wijeysundera DN, Scales DC
JAMA 2019 Feb 5;321(5):493-503. doi: 10.1001/jama.2018.21413. PMID: 30721300
Dalessandri D, Parrini S, Rubiano R, Gallone D, Migliorati M
Eur J Orthod 2017 Apr 1;39(2):161-169. doi: 10.1093/ejo/cjw027. PMID: 27036134
Kiliaridis S, Sidira M, Kirmanidou Y, Michalakis K
Eur J Oral Implantol 2016;9 Suppl 1:S5-24. PMID: 27314109

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