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Anterior basal encephalocele

MedGen UID:
342632
Concept ID:
C1850961
Congenital Abnormality
HPO: HP:0006992

Term Hierarchy

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

Conditions with this feature

Frontorhiny
MedGen UID:
1803615
Concept ID:
C5574965
Congenital Abnormality
A distinct syndromic type of frontonasal malformation with characteristics of hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears.

Recent clinical studies

Etiology

Van Gompel JJ, Khan YA, Bloomfield EL, Pallanch JF, Atkinson JL
Surg Neurol 2009 Dec;72(6):757-60. Epub 2009 Jul 14 doi: 10.1016/j.surneu.2009.05.015. PMID: 19604548
Grubben C, Fryns JP, De Zegher F, Van Den Berghe H
Genet Couns 1990;1(2):103-9. PMID: 2080994
Yokota A, Matsukado Y, Fuwa I, Moroki K, Nagahiro S
Neurosurgery 1986 Sep;19(3):468-78. doi: 10.1227/00006123-198609000-00025. PMID: 3762899

Diagnosis

Grubben C, Fryns JP, De Zegher F, Van Den Berghe H
Genet Couns 1990;1(2):103-9. PMID: 2080994
Ibrahim AW, Ashoor AZ, Satti MB
Neurochirurgia (Stuttg) 1988 Jan;31(1):35-7. doi: 10.1055/s-2008-1053897. PMID: 3347336
Yokota A, Matsukado Y, Fuwa I, Moroki K, Nagahiro S
Neurosurgery 1986 Sep;19(3):468-78. doi: 10.1227/00006123-198609000-00025. PMID: 3762899

Prognosis

Grubben C, Fryns JP, De Zegher F, Van Den Berghe H
Genet Couns 1990;1(2):103-9. PMID: 2080994

Clinical prediction guides

Van Gompel JJ, Khan YA, Bloomfield EL, Pallanch JF, Atkinson JL
Surg Neurol 2009 Dec;72(6):757-60. Epub 2009 Jul 14 doi: 10.1016/j.surneu.2009.05.015. PMID: 19604548

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