Literature DB >> 1415340

CNS midline anomalies in the Opitz G/BBB syndrome: report on 12 Brazilian patients.

M L Guion-Almeida1, A Richieri-Costa.   

Abstract

We report on 12 Brazilian boys with the Optiz G/BBB syndrome associated with CNS midline anomalies, namely, Dandy-Walker anomaly (two patients), enlarged cisterna magna (four patients), enlarged 4th ventricle (four patients), and callosal a/hypoplasia (two patients). These signs clearly show the involvement of the CNS midline in the Opitz G/BBB syndrome.

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Year:  1992        PMID： 1415340     DOI： 10.1002/ajmg.1320430603

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


  3 in total

1.  Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.

Authors:  Paul Kruszka; Dong Li; Margaret H Harr; Nathan R Wilson; Daniel Swarr; Elizabeth M McCormick; Rosetta M Chiavacci; Mindy Li; Ariel F Martinez; Rachel A Hart; Donna M McDonald-McGinn; Matthew A Deardorff; Marni J Falk; Judith E Allanson; Cindy Hudson; John P Johnson; Irfan Saadi; Hakon Hakonarson; Maximilian Muenke; Elaine H Zackai
Journal:  J Med Genet       Date:  2014-11-20       Impact factor: 6.318

2.  Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome.

Authors:  Bijun Li; Tianhong Zhou; Yi Zou
Journal:  Mol Genet Genomic Med       Date:  2015-12-12       Impact factor: 2.183

3.  Auditory findings and electrophysiologics in individuals with G/BBB syndrome.

Authors:  Tatiana Vialôgo Cassab; Sthella Zanchetta; Célia Maria Giacheti; Neivo Luiz Zorzetto; Antonio Richieri-Costa
Journal:  Braz J Otorhinolaryngol       Date:  2011 Nov-Dec
  3 in total

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