Literature DB >> 2688419

BBBG syndrome or Opitz syndrome: new family.

A Verloes1, M Le Merrer, M L Briard.   

Abstract

We report on a family where the propositus had G syndrome, including laryngeal cleft, and another relative had the facial anomalies typical of the BBB syndrome. We review the literature on the BBB and G syndrome, and argue that no clinical or laboratory criteria permit a differential diagnosis of the two syndromes. Therefore, we suggest that they should be considered variable expression of the same gene. The name BBBG syndrome is proposed for the amalgamated syndrome.

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Year:  1989        PMID: 2688419     DOI: 10.1002/ajmg.1320340303

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


  4 in total

1.  Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome.

Authors:  K Taylor Wild; Tia Gordon; Elizabeth J Bhoj; Haowei Du; Shalini N Jhangiani; Jennifer E Posey; James R Lupski; Daryl A Scott; Elaine H Zackai
Journal:  Am J Med Genet A       Date:  2020-09-21       Impact factor: 2.802

2.  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

3.  Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

Authors:  Elizabeth J Bhoj; Damien Haye; Annick Toutain; Dominique Bonneau; Irene Kibæk Nielsen; Ida Bay Lund; Pauline Bogaard; Stine Leenskjold; Kadri Karaer; Katherine T Wild; Katheryn L Grand; Mirena C Astiazaran; Luis A Gonzalez-Nieto; Ana Carvalho; Daphné Lehalle; Shivarajan M Amudhavalli; Elena Repnikova; Carol Saunders; Isabelle Thiffault; Irfan Saadi; Dong Li; Hakon Hakonarson; Yoann Vial; Elaine Zackai; Patrick Callier; Séverine Drunat; Alain Verloes
Journal:  Eur J Med Genet       Date:  2018-11-22       Impact factor: 2.465

4.  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
  4 in total

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