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Atretic occipital cephalocele

MedGen UID:
332248
•Concept ID:
C1836600
•
Finding
Synonyms: Occipital atretic cephalocele; Occipital cephalocele, atretic
 
HPO: HP:0004470

Definition

A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAtretic occipital cephalocele

Conditions with this feature

Dandy-walker malformation with occipital cephalocele, autosomal dominant
MedGen UID:
393273
•Concept ID:
C2674987
•
Disease or Syndrome
See: Condition Record
Dandy-walker malformation with occipital cephalocele, autosomal dominant

Recent clinical studies

Etiology

Atretic cephalocele associated with sinus pericranii: a single-center analysis.
Rai Y, Ogiwara H
Childs Nerv Syst 2024 Feb;40(2):543-547. Epub 2023 Jul 22 doi: 10.1007/s00381-023-06067-z. PMID: 37480523
The child with a cephalocele: etiology, neuroimaging, and outcome.
Martínez-Lage JF, Poza M, Sola J, Soler CL, Montalvo CG, Domingo R, Puche A, Ramón FH, Azorín P, Lasso R
Childs Nerv Syst 1996 Sep;12(9):540-50. doi: 10.1007/BF00261608. PMID: 8906370

Diagnosis

Holoprosencephaly spectrum among Egyptian patients: clinical and cytogenetic study.
El-Bassyouni HT, Abdel Salam GH, Saleem SN, Kayed HF, Shehab MI, Eid MM, Zaki ME, Zaki MS
Genet Couns 2014;25(4):369-81. PMID: 25804014
Confirmation of the Zechi-Ceide syndrome.
Patil SJ, Bhat V, Dalal A, Santosh JS
Am J Med Genet A 2012 Jun;158A(6):1467-71. Epub 2012 May 14 doi: 10.1002/ajmg.a.35360. PMID: 22585531
Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union.
Zechi-Ceide RM, Guion-Almeida ML, Zanchetta S, Richieri-Costa A
Am J Med Genet A 2007 Dec 15;143A(24):3295-301. doi: 10.1002/ajmg.a.32019. PMID: 17907157
The child with a cephalocele: etiology, neuroimaging, and outcome.
Martínez-Lage JF, Poza M, Sola J, Soler CL, Montalvo CG, Domingo R, Puche A, Ramón FH, Azorín P, Lasso R
Childs Nerv Syst 1996 Sep;12(9):540-50. doi: 10.1007/BF00261608. PMID: 8906370
Atretic cephalocele: the tip of the iceberg.
Martinez-Lage JF, Sola J, Casas C, Poza M, Almagro MJ, Girona DG
J Neurosurg 1992 Aug;77(2):230-5. doi: 10.3171/jns.1992.77.2.0230. PMID: 1625010

Prognosis

The child with a cephalocele: etiology, neuroimaging, and outcome.
Martínez-Lage JF, Poza M, Sola J, Soler CL, Montalvo CG, Domingo R, Puche A, Ramón FH, Azorín P, Lasso R
Childs Nerv Syst 1996 Sep;12(9):540-50. doi: 10.1007/BF00261608. PMID: 8906370
Atretic cephalocele: the tip of the iceberg.
Martinez-Lage JF, Sola J, Casas C, Poza M, Almagro MJ, Girona DG
J Neurosurg 1992 Aug;77(2):230-5. doi: 10.3171/jns.1992.77.2.0230. PMID: 1625010
Parietal cephalocele: clinical importance of its atretic form and associated malformations.
Yokota A, Kajiwara H, Kohchi M, Fuwa I, Wada H
J Neurosurg 1988 Oct;69(4):545-51. doi: 10.3171/jns.1988.69.4.0545. PMID: 3418387

Clinical prediction guides

Atretic cephaloceles: a comprehensive analysis of historical cohort.
Demir MK, Çolak A, Ekşi MŞ, Özcan-Ekşi EE, Akakın A, Yılmaz B
Childs Nerv Syst 2016 Dec;32(12):2327-2337. Epub 2016 Jul 26 doi: 10.1007/s00381-016-3194-z. PMID: 27461273

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