Literature DB >> 2827473

The Opitz syndrome: a new designation for the clinically indistinguishable BBB and G syndromes.

M Cappa1, P Borrelli, R Marini, G Neri.   

Abstract

The BBB and G syndromes are multiple congenital anomaly (MCA) syndromes characterized by a developmental defect of the midline field. Prominent clinical manifestations are hypertelorism and, in males, hypospadias. Transmission is most likely autosomal dominant in both syndromes. Examination of two new cases and scrutiny of the literature led us to conclude that there are no discriminating qualitative differences between the two conditions. Therefore we propose that they both be designated by the common term "Opitz syndrome."

Entities:  

Mesh：

Year:  1987        PMID： 2827473     DOI： 10.1002/ajmg.1320280207

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


  7 in total

1.  Hypospadias-hypertelorism syndrome.

Authors:  J S Goraya; A S Bawa; S Bharti
Journal:  Indian J Pediatr       Date:  2000-12       Impact factor: 1.967

2.  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

3.  Congenital alacrima in a patient with G (Opitz Frias) syndrome.

Authors:  M Dundar; K Erkihç; F Demiryilmaz; M Küçükaydin; M Kendirci; H Okur; A Kazez
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132

4.  Two brothers with characteristic facial appearance, severe psychomotor retardation, hypospadias, contractures, and other symptoms: a new recessive syndrome?

Authors:  G Wolff; E Zimmermann; B Zimmerhackl; C Harnasch; C Jung; E Back
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

5.  Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and co-operates with Mid1 to bundle and stabilize microtubules.

Authors:  Caterina Berti; Bianca Fontanella; Rosa Ferrentino; Germana Meroni
Journal:  BMC Cell Biol       Date:  2004-02-29       Impact factor: 4.241

6.  A surgical approach to the craniofacial defects of Opitz G/BBB syndrome.

Authors:  John P Regan; Karen Szymanski; Silvio Podda; Francesco Gargano; Anthony Kopiecki
Journal:  J Surg Case Rep       Date:  2017-02-17

7.  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
  7 in total

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