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Anterior encephalocele

MedGen UID:
425865
•Concept ID:
CN006142
•
Finding
HPO: HP:0007035

Term Hierarchy

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

Conditions with this feature

Amelia cleft lip palate hydrocephalus iris coloboma
MedGen UID:
321957
•Concept ID:
C1832434
•
Disease or Syndrome
Brachial amelia, cleft lip, and holoprosencephaly (ACLH) is a severe multiple congenital anomaly disorder characterized by brachial amelia, cleft lip, and forebrain defects consistent with holoprosencephaly. Although the disorder is rarely reported, the features are consistent enough to constitute a distinct entity (summary by Kariminejad et al., 2009).
See: Condition Record
Amelia cleft lip palate hydrocephalus iris coloboma

Professional guidelines

PubMed

Prenatal diagnosis of dacryocystocele: a possible marker for syndromes.
Sharony R, Raz J, Aviram R, Cohen I, Beyth Y, Tepper R
Ultrasound Obstet Gynecol 1999 Jul;14(1):71-3. doi: 10.1046/j.1469-0705.1999.14010071.x. PMID: 10461343
On the diagnosis and treatment of anterior encephalocele. Review of 20 cases.
Poradowska W, Reszke S, Jaworska M, Lodzinski K
Acta Chir Plast 1973;15(3):137-48. PMID: 4127902

Recent clinical studies

Etiology

Management of median and paramedian craniofacial clefts.
Rüegg EM, Bartoli A, Rilliet B, Scolozzi P, Montandon D, Pittet-Cuénod B
J Plast Reconstr Aesthet Surg 2019 Apr;72(4):676-684. Epub 2019 Jan 9 doi: 10.1016/j.bjps.2019.01.001. PMID: 30691993
Growth and Psychological Development in Postoperative Patients With Anterior Encephaloceles.
Dutta HK, Khangkeo CW, Baruah K, Borbora D
Pediatr Neurol 2017 Jun;71:29-34. Epub 2017 Feb 8 doi: 10.1016/j.pediatrneurol.2017.01.029. PMID: 28499675
Evidence of gene-gene interactions between MTHFD1 and MTHFR in relation to anterior encephalocele susceptibility in Northeast India.
Dutta HK, Borbora D, Baruah M, Narain K
Birth Defects Res 2017 Apr 3;109(6):432-444. Epub 2017 Feb 20 doi: 10.1002/bdra.23607. PMID: 28398708
Giant Interfrontal Encephalocele in an Infant: A Rare Entity.
Faheem M, Singh SK, Ojha BK, Chandra A, Srivastava C, Jaiswal M, Zeeshan Q
Pediatr Neurosurg 2016;51(6):309-312. Epub 2016 Aug 12 doi: 10.1159/000447408. PMID: 27513987
Giant encephalocele: a study of 14 patients.
Mahapatra AK
Pediatr Neurosurg 2011;47(6):406-11. Epub 2012 Jul 7 doi: 10.1159/000338895. PMID: 22776867

Diagnosis

CSF Oculorrhea Presenting as "Tearing" following the Repair of Fronto-Ethmoidal Encephalocele.
Goyal N, Patil A, Vathulya M, Kumawat D, Bhatia R, Agrawal S
Pediatr Neurosurg 2021;56(1):67-72. Epub 2021 Feb 15 doi: 10.1159/000513372. PMID: 33588414
Encephalocele presenting as lower lid swelling: A rare case report.
Jain VK, Kanaujia V, Mishra P, Sharma K
Indian J Ophthalmol 2018 Mar;66(3):453-454. doi: 10.4103/ijo.IJO_894_17. PMID: 29480266Free PMC Article
Temporal anterior encephalocele.
Vargas MI, Vulliemoz S, Rosset A, Seeck M, Delavelle J
Neurology 2008 Oct 14;71(16):1293. doi: 10.1212/01.wnl.0000327602.65933.79. PMID: 18852447
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
Prenatal diagnosis of dacryocystocele: a possible marker for syndromes.
Sharony R, Raz J, Aviram R, Cohen I, Beyth Y, Tepper R
Ultrasound Obstet Gynecol 1999 Jul;14(1):71-3. doi: 10.1046/j.1469-0705.1999.14010071.x. PMID: 10461343

Therapy

Anterior encephalocele with subcutaneous right facial nodule.
Petrick MG, Kwong PC
J Am Acad Dermatol 2004 Aug;51(2 Suppl):S77-9. doi: 10.1016/j.jaad.2003.08.022. PMID: 15280818
Goldenhar syndrome, anterior encephalocele, and aqueductal stenosis following fetal primidone exposure.
Gustavson EE, Chen H
Teratology 1985 Aug;32(1):13-7. doi: 10.1002/tera.1420320103. PMID: 4035586

Prognosis

Management Challenges in an Infant With Pentalogy of Cantrell, Giant Anterior Encephalocele, and Craniofacial Anomalies: A Case Report.
Hubbard R, Hayes S, Gillis H, Lindsey S, Malhotra P, Wani T, Tobias JD, Beltran R
A A Pract 2018 Nov 1;11(9):238-240. doi: 10.1213/XAA.0000000000000793. PMID: 29782331
Growth and Psychological Development in Postoperative Patients With Anterior Encephaloceles.
Dutta HK, Khangkeo CW, Baruah K, Borbora D
Pediatr Neurol 2017 Jun;71:29-34. Epub 2017 Feb 8 doi: 10.1016/j.pediatrneurol.2017.01.029. PMID: 28499675
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
Prenatal diagnosis of dacryocystocele: a possible marker for syndromes.
Sharony R, Raz J, Aviram R, Cohen I, Beyth Y, Tepper R
Ultrasound Obstet Gynecol 1999 Jul;14(1):71-3. doi: 10.1046/j.1469-0705.1999.14010071.x. PMID: 10461343
Anterior encephaloceles: a report of 30 cases.
Mahapatra AK, Tandon PN, Dhawan IK, Khazanchi RK
Childs Nerv Syst 1994 Nov;10(8):501-4. doi: 10.1007/BF00335071. PMID: 7882371

Clinical prediction guides

Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations.
Rehder H, Kircher SG, Schoner K, Smogavec M, Behunova J, Ihm U, Plassmann M, Hofer M, Ringl H, Laccone F
Orphanet J Rare Dis 2023 Mar 16;18(1):57. doi: 10.1186/s13023-023-02617-5. PMID: 36927364Free PMC Article
Supraciliary keyhole craniotomy for anterior frontal lesions in children.
Benifla M, Merkin V, Rosenthal G, Shoshan Y, Melamed I
J Clin Neurosci 2016 Apr;26:37-41. Epub 2016 Jan 4 doi: 10.1016/j.jocn.2015.10.024. PMID: 26758703
Giant encephalocele: a study of 14 patients.
Mahapatra AK
Pediatr Neurosurg 2011;47(6):406-11. Epub 2012 Jul 7 doi: 10.1159/000338895. PMID: 22776867
Evolving hypopituitarism in children with central nervous system lesions.
Hanna CE, LaFranchi SH
Pediatrics 1983 Jul;72(1):65-70. PMID: 6408595

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