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Nasofrontal encephalocele

MedGen UID:
488902
•Concept ID:
C0431291
•
Congenital Abnormality
Synonym: Naso-frontal encephalocele
SNOMED CT: Nasofrontal encephalocele (253106003)
 
HPO: HP:0011818

Term Hierarchy

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

Conditions with this feature

Craniofacial anomalies and anterior segment dysgenesis syndrome
MedGen UID:
481729
•Concept ID:
C3280099
•
Disease or Syndrome
See: Condition Record
Craniofacial anomalies and anterior segment dysgenesis syndrome

Professional guidelines

PubMed

Frontoethmoidal encephalocele: clinical presentation, diagnosis, treatment, and complications in 400 cases.
Arifin M, Suryaningtyas W, Bajamal AH
Childs Nerv Syst 2018 Jun;34(6):1161-1168. Epub 2018 Jan 5 doi: 10.1007/s00381-017-3716-3. PMID: 29305685

Recent clinical studies

Etiology

Managing an open nasofrontal encephalocele after birth.
Apostolou N, Gräfe D, Knüpfer M, Krause M
Childs Nerv Syst 2023 Feb;39(2):535-540. Epub 2022 Nov 10 doi: 10.1007/s00381-022-05620-6. PMID: 36355194Free PMC Article
Management of an open nasofrontal encephalocele during the first day of life.
Pontell ME, Niklinska E, Bonfield CM, Golinko MS
Childs Nerv Syst 2022 Jan;38(1):207-210. Epub 2021 Mar 6 doi: 10.1007/s00381-021-05102-1. PMID: 33677686
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.
Lehalle D, Altunoglu U, Bruel AL, Arnaud E, Blanchet P, Choi JW, Désir J, Kiliç E, Lederer D, Pinson L, Thauvin-Robinet C, Singer A, Thevenon J, Callier P, Kayserili H, Faivre L
Am J Med Genet A 2017 Dec;173(12):3136-3142. doi: 10.1002/ajmg.a.38490. PMID: 29136349
Congenital midline nasofrontal mass. Two case reports with a clinical review.
Haafiz AB, Sharma R, Faillace WJ
Clin Pediatr (Phila) 1995 Sep;34(9):482-6. doi: 10.1177/000992289503400906. PMID: 7586921

Diagnosis

Managing an open nasofrontal encephalocele after birth.
Apostolou N, Gräfe D, Knüpfer M, Krause M
Childs Nerv Syst 2023 Feb;39(2):535-540. Epub 2022 Nov 10 doi: 10.1007/s00381-022-05620-6. PMID: 36355194Free PMC Article
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.
Lehalle D, Altunoglu U, Bruel AL, Arnaud E, Blanchet P, Choi JW, Désir J, Kiliç E, Lederer D, Pinson L, Thauvin-Robinet C, Singer A, Thevenon J, Callier P, Kayserili H, Faivre L
Am J Med Genet A 2017 Dec;173(12):3136-3142. doi: 10.1002/ajmg.a.38490. PMID: 29136349
Anterior (nasofrontal) encephalocele and chondrodysplasia at 21 weeks' gestation.
Sherer DM, Dalloul M, Dabiri TO, Hernandez C, Kheyman M, Sokolovski M, Abulafia O
Prenat Diagn 2010 Jun;30(6):591-3. doi: 10.1002/pd.2533. PMID: 20509164
Congenital midline nasofrontal mass. Two case reports with a clinical review.
Haafiz AB, Sharma R, Faillace WJ
Clin Pediatr (Phila) 1995 Sep;34(9):482-6. doi: 10.1177/000992289503400906. PMID: 7586921

Therapy

Intermittent palpebral oedema following surgery for nasofrontal encephalocele.
Schaeken N, Deconinck H, Stadnik T, Brouwers K, Mathys R
Bull Soc Belge Ophtalmol 2010;(316):33-6. PMID: 21305811
Osmotic myelinolysis with malignant cerebellar edema occurring after DDAVP-induced hyponatremia in a child.
Ranger A, Szymczak A, Levin S, Salvadori M, Fraser DD
Pediatr Neurosurg 2010;46(4):318-23. Epub 2010 Dec 30 doi: 10.1159/000320146. PMID: 21196800

Prognosis

Congenital midline nasofrontal mass. Two case reports with a clinical review.
Haafiz AB, Sharma R, Faillace WJ
Clin Pediatr (Phila) 1995 Sep;34(9):482-6. doi: 10.1177/000992289503400906. PMID: 7586921
Intraoperative management of an infant with a nasofrontal encephalocele.
Sloan E
Todays OR Nurse 1992 May;14(5):6-10. PMID: 1585430

Clinical prediction guides

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.
Lehalle D, Altunoglu U, Bruel AL, Arnaud E, Blanchet P, Choi JW, Désir J, Kiliç E, Lederer D, Pinson L, Thauvin-Robinet C, Singer A, Thevenon J, Callier P, Kayserili H, Faivre L
Am J Med Genet A 2017 Dec;173(12):3136-3142. doi: 10.1002/ajmg.a.38490. PMID: 29136349

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