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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).
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
MedGen UID:
1748867
Concept ID:
C5399977
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see 256000). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; 253300). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by Papadopoulou et al., 1999). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.

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
Silberberg N, Goldstein M, Smidt A
Quintessence Int 2009 Nov-Dec;40(10):809-18. PMID: 19898712

Recent clinical studies

Etiology

Tan AP, Rasheed S, Sidpra J, Lim MC, James G, Oztekin O, Gonçalves FG, Mankad K
Br J Neurosurg 2023 Oct;37(5):986-999. Epub 2021 May 7 doi: 10.1080/02688697.2021.1919599. PMID: 33960863
Browd SR, Goodrich JT, Walker ML
J Neurosurg Pediatr 2008 Jan;1(1):1-20. doi: 10.3171/PED-08/01/001. PMID: 18352797
David LR, Argenta LC, Venes J, Wilson J, Glazier S
J Craniofac Surg 1998 Jan;9(1):3-10. doi: 10.1097/00001665-199801000-00003. PMID: 9558561
Moore MH
J Craniofac Surg 1996 Nov;7(6):408-11. doi: 10.1097/00001665-199611000-00003. PMID: 10332258
Friede H
Acta Odontol Scand 1995 Jun;53(3):203-9. doi: 10.3109/00016359509005973. PMID: 7572098

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
GORLIN RJ, JUE KL, JACOBSEN U, GOLDSCHMIDT E
J Pediatr 1963 Nov;63:991-9. doi: 10.1016/s0022-3476(63)80233-4. PMID: 14071056

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
Whiting MJ
Adv Clin Chem 1986;25:169-232. doi: 10.1016/s0065-2423(08)60126-2. PMID: 3521214

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
Jane JA Jr, Lin KY, Jane JA Sr
Neurosurg Focus 2000 Sep 15;9(3):e3. doi: 10.3171/foc.2000.9.3.4. PMID: 16833254
Hoving EW
Childs Nerv Syst 2000 Nov;16(10-11):702-6. doi: 10.1007/s003810000339. PMID: 11151720
Kapusta L, Brunner HG, Hamel BC
Eur J Pediatr 1992 Nov;151(11):837-41. doi: 10.1007/BF01957936. PMID: 1468459

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
Jane JA Jr, Lin KY, Jane JA Sr
Neurosurg Focus 2000 Sep 15;9(3):e3. doi: 10.3171/foc.2000.9.3.4. PMID: 16833254
Kapusta L, Brunner HG, Hamel BC
Eur J Pediatr 1992 Nov;151(11):837-41. doi: 10.1007/BF01957936. PMID: 1468459

Recent systematic reviews

Tooze RS, Calpena E, Weber A, Wilson LC, Twigg SRF, Wilkie AOM
Genes (Basel) 2023 Feb 28;14(3) doi: 10.3390/genes14030615. PMID: 36980886Free PMC Article
Fiaschi P, Bue EL, Ceraudo M, Secci F, Tortora D, Piatelli G, Severino M, Gandolfo C, Vercellino N, Pavanello M
Clin Neurol Neurosurg 2022 Aug;219:107334. Epub 2022 Jun 9 doi: 10.1016/j.clineuro.2022.107334. PMID: 35738119
Alexiou GA, Lampros M, Gavra MM, Vlachos N, Ydreos J, Boviatsis EJ
World Neurosurg 2022 Aug;164:323-329. Epub 2022 May 30 doi: 10.1016/j.wneu.2022.05.107. PMID: 35654328
Jankowski T, Jedliński M, Grocholewicz K, Janiszewska-Olszowska J
Int J Environ Res Public Health 2021 Apr 22;18(9) doi: 10.3390/ijerph18094456. PMID: 33922272Free PMC Article
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

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