Literature DB >> 1867268

Teebi hypertelorism syndrome (brachycephalofrontonasal dysplasia) in a U.S. family.

R F Stratton1.   

Abstract

Teebi (Am J Med Genet 28:581-591, 1987) described a pattern of anomalies in an Arab kindred involving 16 individuals in 4 generations. Although some findings were similar to those in craniofrontonasal dysplasia, absence of craniosynostosis, normal to slightly broad nasal tip, normal nails, and male to male transmission distinguished this as a separate entity. This paper describes a U.S. family with similar findings, involving 6 individuals (2 male and 4 female) in 4 generations, with male to male transmission.

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Mesh:

Year:  1991        PMID: 1867268     DOI: 10.1002/ajmg.1320390117

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


  3 in total

Review 1.  Autosomal recessive disorders among Arabs: an overview from Kuwait.

Authors:  A S Teebi
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

2.  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

3.  Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.

Authors:  Dong Li; Michael E March; Paola Fortugno; Liza L Cox; Leticia S Matsuoka; Rosanna Monetta; Christoph Seiler; Louise C Pyle; Emma C Bedoukian; María José Sánchez-Soler; Oana Caluseriu; Katheryn Grand; Allison Tam; Alicia R P Aycinena; Letizia Camerota; Yiran Guo; Patrick Sleiman; Bert Callewaert; Candy Kumps; Annelies Dheedene; Michael Buckley; Edwin P Kirk; Anne Turner; Benjamin Kamien; Chirag Patel; Meredith Wilson; Tony Roscioli; John Christodoulou; Timothy C Cox; Elaine H Zackai; Francesco Brancati; Hakon Hakonarson; Elizabeth J Bhoj
Journal:  Hum Genet       Date:  2021-04-03       Impact factor: 5.881

  3 in total

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