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Cranioschisis

MedGen UID:
78563
•Concept ID:
C0265541
•
Congenital Abnormality
Synonym: Cranioschises
SNOMED CT: Cranioschisis (48777005)

Definition

A congenital abnormality characterized by the failure of the bones of the skull to close. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCranioschisis

Professional guidelines

PubMed

Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.
Yiu EM, Bray P, Baets J, Baker SK, Barisic N, de Valle K, Estilow T, Farrar MA, Finkel RS, Haberlová J, Kennedy RA, Moroni I, Nicholson GA, Ramchandren S, Reilly MM, Rose K, Shy ME, Siskind CE, Yum SW, Menezes MP, Ryan MM, Burns J
J Neurol Neurosurg Psychiatry 2022 May;93(5):530-538. Epub 2022 Feb 9 doi: 10.1136/jnnp-2021-328483. PMID: 35140138
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group
Pediatr Neurol 2021 Oct;123:50-66. Epub 2021 Jul 24 doi: 10.1016/j.pediatrneurol.2021.07.011. PMID: 34399110
Update on prenatal diagnosis and fetal surgery for myelomeningocele.
Meller C, Covini D, Aiello H, Izbizky G, Portillo Medina S, Otaño L
Arch Argent Pediatr 2021 Jun;119(3):e215-e228. doi: 10.5546/aap.2021.eng.e215. PMID: 34033426

Recent clinical studies

Etiology

Neural tube defects in four Shetland sheepdog puppies: clinical characterisation and computed tomography investigation.
Thomas ZM, Podadera JM, Donahoe SL, Foo T, Weerakoon L, Mazrier H
Aust Vet J 2020 Jul;98(7):312-318. Epub 2020 Apr 22 doi: 10.1111/avj.12949. PMID: 32319083
Parietal bone agenesis and associated multiple congenital anomalies.
de Heer IM, van Nesselrooij BP, Spliet W, Vermeij-Keers C
J Craniofac Surg 2003 Mar;14(2):192-6. doi: 10.1097/00001665-200303000-00010. PMID: 12621289
Cephalic axial skeletal-neural dysraphic disorders: embryology and pathology.
Marín-Padilla M
Can J Neurol Sci 1991 May;18(2):153-69. doi: 10.1017/s0317167100031632. PMID: 2070298

Diagnosis

Pentalogy of Cantrell associated with unilateral anophthalmia: Case report and literature review.
Grigore M, Furnica C, Esanu I, Gafitanu D
Medicine (Baltimore) 2018 Aug;97(31):e11511. doi: 10.1097/MD.0000000000011511. PMID: 30075516Free PMC Article
Encephalocystocele - uncommon diagnosis in prenatal medicine.
Dankovcik R, Vyhnalkova V, Muranska S, Kucera E, Korpova M, Plichtova A, Miklosova M, Ferianec V, Evangelista Jirasek J, Dudas M
Fetal Diagn Ther 2012;32(4):295-8. Epub 2012 Oct 24 doi: 10.1159/000341569. PMID: 23095453
Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. IV: closure defects of the neural tube.
Oostra RJ, Baljet B, Hennekam RC
Am J Med Genet 1998 Oct 30;80(1):60-73. doi: 10.1002/(sici)1096-8628(19981102)80:1<60::aid-ajmg9>3.0.co;2-i. PMID: 9800912

Therapy

Disorganization is a completely dominant gain-of-function mouse mutation causing sporadic developmental defects.
Crosby JL, Varnum DS, Washburn LL, Nadeau JH
Mech Dev 1992 May;37(3):121-6. doi: 10.1016/0925-4773(92)90074-t. PMID: 1498039
The "stright-jacket" syndrome in chicks. II. Mechanism of development.
Jelínek R, Doskocil M, Lostický C
Teratology 1976 Dec;14(3):327-34. doi: 10.1002/tera.1420140308. PMID: 996780

Prognosis

Pentalogy of Cantrell associated with unilateral anophthalmia: Case report and literature review.
Grigore M, Furnica C, Esanu I, Gafitanu D
Medicine (Baltimore) 2018 Aug;97(31):e11511. doi: 10.1097/MD.0000000000011511. PMID: 30075516Free PMC Article
Encephalocystocele - uncommon diagnosis in prenatal medicine.
Dankovcik R, Vyhnalkova V, Muranska S, Kucera E, Korpova M, Plichtova A, Miklosova M, Ferianec V, Evangelista Jirasek J, Dudas M
Fetal Diagn Ther 2012;32(4):295-8. Epub 2012 Oct 24 doi: 10.1159/000341569. PMID: 23095453
Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four cases.
Purandare SM, Ernst L, Medne L, Huff D, Zackai EH
Am J Med Genet A 2009 Aug;149A(8):1740-8. doi: 10.1002/ajmg.a.32716. PMID: 19606475
Role of the notochord in the development of cephalic structures in normal and anencephalic human fetuses.
Saraga-Babić M, Saraga M
Virchows Arch A Pathol Anat Histopathol 1993;422(2):161-8. doi: 10.1007/BF01607168. PMID: 8465515
Disorganization is a completely dominant gain-of-function mouse mutation causing sporadic developmental defects.
Crosby JL, Varnum DS, Washburn LL, Nadeau JH
Mech Dev 1992 May;37(3):121-6. doi: 10.1016/0925-4773(92)90074-t. PMID: 1498039

Clinical prediction guides

Neural tube defects in four Shetland sheepdog puppies: clinical characterisation and computed tomography investigation.
Thomas ZM, Podadera JM, Donahoe SL, Foo T, Weerakoon L, Mazrier H
Aust Vet J 2020 Jul;98(7):312-318. Epub 2020 Apr 22 doi: 10.1111/avj.12949. PMID: 32319083
Role of the notochord in the development of cephalic structures in normal and anencephalic human fetuses.
Saraga-Babić M, Saraga M
Virchows Arch A Pathol Anat Histopathol 1993;422(2):161-8. doi: 10.1007/BF01607168. PMID: 8465515
Disorganisation: a model for 'early amnion rupture'?
Donnai D, Winter RM
J Med Genet 1989 Jul;26(7):421-5. doi: 10.1136/jmg.26.7.421. PMID: 2746613Free PMC Article
The "stright-jacket" syndrome in chicks. II. Mechanism of development.
Jelínek R, Doskocil M, Lostický C
Teratology 1976 Dec;14(3):327-34. doi: 10.1002/tera.1420140308. PMID: 996780

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