Literature DB >> 1580960

Schizencephaly: case report of familial incidence.

M A Hosley1, I F Abroms, R L Ragland.   

Abstract

Two half-siblings with schizencephaly are presented. They have the same mother who had a normal cerebral imaging study. Only one other kindred was found in which 2 siblings had this cerebral lesion. In the present patients, autosomal inheritance from the mother is possible, but other explanations should include familial, as well as genetic, factors. Family counseling should stress the sporadic nature of this entity but a recurrence in the same sibship is possible. Details of the clinical and magnetic resonance imaging studies are presented.

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Year:  1992        PMID: 1580960     DOI: 10.1016/0887-8994(92)90039-2

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN: 0887-8994            Impact factor:   3.372


  6 in total

Review 1.  Genetic malformations of cortical development.

Authors:  Renzo Guerrini; Carla Marini
Journal:  Exp Brain Res       Date:  2006-05-25       Impact factor: 1.972

Review 2.  Malformations of cortical development: clinical features and genetic causes.

Authors:  Renzo Guerrini; William B Dobyns
Journal:  Lancet Neurol       Date:  2014-06-02       Impact factor: 44.182

3.  An unusual clinical presentation of bilateral schizencephaly.

Authors:  M Avellanet; R M Mirapeix; D Escudero; C Riera; J M Domenech-Mateu
Journal:  Surg Radiol Anat       Date:  1996       Impact factor: 1.246

4.  Dizygotic twins with schizencephaly and focal cortical dysplasia.

Authors:  U Senol; K Karaali; B Aktekin; S Yilmaz; T Sindel
Journal:  AJNR Am J Neuroradiol       Date:  2000-09       Impact factor: 3.825

5.  Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort.

Authors:  Cecilia Mellado; Annapurna Poduri; Danielle Gleason; Princess C Elhosary; Brenda J Barry; Jennifer N Partlow; Bernard S Chang; Gary M Shaw; A James Barkovich; Christopher A Walsh
Journal:  Am J Med Genet A       Date:  2010-11       Impact factor: 2.802

6.  Familial schizencephaly: further delineation of a rare disorder.

Authors:  F Haverkamp; K Zerres; B Ostertun; D Emons; M J Lentze
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318

  6 in total

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