Literature DB >> 2629725

Holoprosencephaly: a developmental field defect.

V P Johnson1.   

Abstract

Holoprosencephaly refers to a spectrum of craniofacial malformations including cyclopia, ethmocephaly, cebocephaly, and premaxillary agenesis. Etiologic heterogeneity is well documented. Chromosomal, genetic, and teratogenic factors have been implicated. Recognition of holoprosencephaly as a developmental field defect stresses the importance of close scrutiny of relatives for mild forms such as single median incisor, hypotelorism, bifid uvula, or pituitary deficiency.

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Year:  1989        PMID： 2629725     DOI： 10.1002/ajmg.1320340228

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  6 in total

1.  Investigation of a cyclopic, human, term fetus by use of magnetic resonance imaging (MRI).

Authors:  D Situ; C W Reifel; R Smith; G W Lyons; R Temkin; C Harper-Little; S C Pang
Journal:  J Anat       Date:  2002-05       Impact factor: 2.610

2.  Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.

Authors:  M Muenke; F Gurrieri; C Bay; D H Yi; A L Collins; V P Johnson; R C Hennekam; G B Schaefer; L Weik; M S Lubinsky
Journal:  Proc Natl Acad Sci U S A       Date:  1994-08-16       Impact factor: 11.205

Review 3.  Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

Authors:  A Verloes; S Aymé; D Gambarelli; M Gonzales; M Le Merrer; N Mulliez; N Philip; J Roume
Journal:  J Med Genet       Date:  1991-05       Impact factor: 6.318

4.  Holoprosencephaly: a family showing dominant inheritance and variable expression.

Authors:  A L Collins; P W Lunt; C Garrett; N R Dennis
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

5.  3-D reconstruction of a human fetus with combined holoprosencephaly and cyclopia.

Authors:  Wolfgang H Arnold; Veronika Meiselbach
Journal:  Head Face Med       Date:  2009-06-29       Impact factor: 2.151

6.  Histogenesis of retinal dysplasia in trisomy 13.

Authors:  Ada Chan; Satyan Lakshminrusimha; Reid Heffner; Federico Gonzalez-Fernandez
Journal:  Diagn Pathol       Date:  2007-12-18       Impact factor: 2.644
  6 in total

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