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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

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
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
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
Review of skull base surgery in a Nigerian teaching hospital.
Adeolu AA, Adeniji AO, Komolafe EO, Amusa YB, Olateju SO, Oyebamiji EO, Olabanji JK, Faponle AF, Akinpelu OV
Niger Postgrad Med J 2010 Mar;17(1):50-4. PMID: 20348983
Anterior encephaloceles: a study of 92 cases.
Mahapatra AK, Suri A
Pediatr Neurosurg 2002 Mar;36(3):113-8. doi: 10.1159/000048365. PMID: 11919444

Diagnosis

Review of skull base surgery in a Nigerian teaching hospital.
Adeolu AA, Adeniji AO, Komolafe EO, Amusa YB, Olateju SO, Oyebamiji EO, Olabanji JK, Faponle AF, Akinpelu OV
Niger Postgrad Med J 2010 Mar;17(1):50-4. PMID: 20348983
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
VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells.
Mintz-Hittner HA, Semina EV, Frishman LJ, Prager TC, Murray JC
Ophthalmology 2004 Apr;111(4):828-36. doi: 10.1016/j.ophtha.2003.07.006. PMID: 15051220
Anterior encephaloceles: a study of 92 cases.
Mahapatra AK, Suri A
Pediatr Neurosurg 2002 Mar;36(3):113-8. doi: 10.1159/000048365. PMID: 11919444
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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