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Orbital encephalocele

MedGen UID:
82875
•Concept ID:
C0271330
•
Congenital Abnormality
Synonym: Encephalocele of orbit
SNOMED CT: Encephalocele of orbit (15671007); Orbital encephalocele (15671007)
 
HPO: HP:0007115

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOrbital encephalocele

Conditions with this feature

Oculocerebrocutaneous syndrome
MedGen UID:
163214
•Concept ID:
C0796092
•
Disease or Syndrome
A rare neurologic disease typically characterized by the triad of eye, central nervous system and skin malformations, and often associated with an intellectual disability.
See: Condition Record
Oculocerebrocutaneous syndrome

Professional guidelines

PubMed

Cephaloceles: treatment, outcome, and antenatal diagnosis.
Simpson DA, David DJ, White J
Neurosurgery 1984 Jul;15(1):14-21. doi: 10.1227/00006123-198407000-00005. PMID: 6472590

Recent clinical studies

Etiology

Traumatic orbital encephalocele: Presentation and imaging.
Wei LA, Kennedy TA, Paul S, Wells TS, Griepentrog GJ, Lucarelli MJ
Orbit 2016;35(2):72-7. Epub 2016 Feb 23 doi: 10.3109/01676830.2015.1122816. PMID: 26905453
The Arrhinias.
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938
Anterior encephaloceles: a series of 103 cases over 32 years.
Mahapatra AK, Agrawal D
J Clin Neurosci 2006 Jun;13(5):536-9. Epub 2006 May 6 doi: 10.1016/j.jocn.2005.05.016. PMID: 16679016

Diagnosis

Post-traumatic intra-orbital meningoencephalocele in adults: technical note on a rare entity and review of the literature.
Cammarata G, Altieri R, Certo F, Petrella L, Basile A, Pizzo A, Crimi S, Battaglia S, Bianchi A, Barbagallo G
Neurosurg Rev 2022 Dec 6;46(1):6. doi: 10.1007/s10143-022-01906-0. PMID: 36471011
Traumatic orbital encephalocele: Presentation and imaging.
Wei LA, Kennedy TA, Paul S, Wells TS, Griepentrog GJ, Lucarelli MJ
Orbit 2016;35(2):72-7. Epub 2016 Feb 23 doi: 10.3109/01676830.2015.1122816. PMID: 26905453
Congenital orbital encephalocele, orbital dystopia, and exophthalmos.
Hwang K, Kim HJ
J Craniofac Surg 2012 Jul;23(4):e343-4. doi: 10.1097/SCS.0b013e3182564d5a. PMID: 22801176
The Arrhinias.
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938
Acute traumatic orbital encephalocele related to orbital roof fracture: reconstruction by using porous polyethylene.
Gazioğlu N, Ulu MO, Ozlen F, Uzan M, Ciplak N
Ulus Travma Acil Cerrahi Derg 2008 Jul;14(3):247-52. PMID: 18781424

Therapy

Conjunctival Mass as an Initial Presentation of Iatrogenic Orbital Encephalocele.
Rautenbach P, Thyagaraja DV, Irvine F
Orbit 2015;34(6):340-1. Epub 2015 Sep 14 doi: 10.3109/01676830.2015.1078365. PMID: 26366625
Acute traumatic orbital encephalocele related to orbital roof fracture: reconstruction by using porous polyethylene.
Gazioğlu N, Ulu MO, Ozlen F, Uzan M, Ciplak N
Ulus Travma Acil Cerrahi Derg 2008 Jul;14(3):247-52. PMID: 18781424

Prognosis

The Arrhinias.
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938
Acute traumatic orbital encephalocele related to orbital roof fracture: reconstruction by using porous polyethylene.
Gazioğlu N, Ulu MO, Ozlen F, Uzan M, Ciplak N
Ulus Travma Acil Cerrahi Derg 2008 Jul;14(3):247-52. PMID: 18781424
Anterior encephaloceles: a series of 103 cases over 32 years.
Mahapatra AK, Agrawal D
J Clin Neurosci 2006 Jun;13(5):536-9. Epub 2006 May 6 doi: 10.1016/j.jocn.2005.05.016. PMID: 16679016
Evidence for the "midline" hypothesis in associated defects of laterality formation and multiple midline anomalies.
Gilbert-Barness E, Debich-Spicer D, Cohen MM Jr, Opitz JM
Am J Med Genet 2001 Jul 15;101(4):382-7. PMID: 11471162

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