Literature DB >> 7894738

Teebi hypertelorism syndrome: report of a third family.

H V Toriello1, K Delp.   

Abstract

We report a mother and daughter who have hypertelorism, mild limb defects, umbilical hernia/omphalocele, natal teeth and minor craniofacial anomalies. These individuals represent the third family with Teebi hypertelorism syndrome, a rare autosomal dominant syndrome.

Entities:  

Mesh：

Year:  1994        PMID： 7894738

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  3 in total

1.  Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome).

Authors:  R Mingarelli; A Castriota Scanderbeg; B Dallapiccola
Journal:  J Med Genet       Date:  1996-10       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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