Literature DB >> 2002485

The Ohdo blepharophimosis syndrome: a third case.

L G Biesecker1.   

Abstract

A patient with a syndrome consisting of blepharophimosis, simple ears, hypoplastic teeth, developmental delay, and hypotonia is described. Previous case reports are reviewed and a differential diagnosis is described. Many of the features in the subject are similar to those described in two previous reports and they constitute a distinct syndrome.

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Year:  1991        PMID： 2002485      PMCID： PMC1016784          DOI： 10.1136/jmg.28.2.131

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  12 in total

1.  Diagnostic criteria for the whistling face syndrome.

Authors:  R M Antley; N Uga; N J Burzynski; R S Baum; D Bixler
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  Type A1 brachydactyly, dwarfism, ptosis, mixed partial hearing loss, microcephaly, and mental retardation.

Authors:  M Tsukahara; Y Azuno; T Kajii
Journal:  Am J Med Genet       Date:  1989-05

Review 3.  The fetal alcohol syndrome.

Authors:  S K Clarren; D W Smith
Journal:  N Engl J Med       Date:  1978-05-11       Impact factor: 91.245

4.  Dubowitz syndrome.

Authors:  R M Winter
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

5.  Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome.

Authors:  S D Pena; M H Shokeir
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

6.  A 26-month-old child with Marden-Walker syndrome and pyloric stenosis.

Authors:  D Gossage; J M Perrin; M G Butler
Journal:  Am J Med Genet       Date:  1987-04

7.  Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)

Authors:  C Oley; M Baraitser
Journal:  J Med Genet       Date:  1988-01       Impact factor: 6.318

8.  Choanal atresia and associated multiple anomalies.

Authors:  B D Hall
Journal:  J Pediatr       Date:  1979-09       Impact factor: 4.406

9.  Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth.

Authors:  S Ohdo; H Madokoro; T Sonoda; K Hayakawa
Journal:  J Med Genet       Date:  1986-06       Impact factor: 6.318

10.  Chondrodystrophic myotonia (Schwartz-Jampel syndrome): report of a new case and follow-up of patients initially reported in 1969.

Authors:  W C Edwards; A W Root
Journal:  Am J Med Genet       Date:  1982-09
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  6 in total

1.  Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

Authors:  Jill Clayton-Smith; James O'Sullivan; Sarah Daly; Sanjeev Bhaskar; Ruth Day; Beverley Anderson; Anne K Voss; Tim Thomas; Leslie G Biesecker; Philip Smith; Alan Fryer; Kate E Chandler; Bronwyn Kerr; May Tassabehji; Sally-Ann Lynch; Malgorzata Krajewska-Walasek; Shane McKee; Janine Smith; Elizabeth Sweeney; Sahar Mansour; Shehla Mohammed; Dian Donnai; Graeme Black
Journal:  Am J Hum Genet       Date:  2011-11-11       Impact factor: 11.025

2.  Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p.

Authors:  A Moncla; N Philip; J F Mattei
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318

Review 3.  Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.

Authors:  Li Xin Zhang; Gabrielle Lemire; Claudia Gonzaga-Jauregui; Sirinart Molidperee; Carolina Galaz-Montoya; David S Liu; Alain Verloes; Amelle G Shillington; Kosuke Izumi; Alyssa L Ritter; Beth Keena; Elaine Zackai; Dong Li; Elizabeth Bhoj; Jennifer M Tarpinian; Emma Bedoukian; Mary K Kukolich; A Micheil Innes; Grace U Ediae; Sarah L Sawyer; Karippoth Mohandas Nair; Para Chottil Soumya; Kinattinkara R Subbaraman; Frank J Probst; Jennifer A Bassetti; Reid V Sutton; Richard A Gibbs; Chester Brown; Philip M Boone; Ingrid A Holm; Marco Tartaglia; Giovanni Battista Ferrero; Marcello Niceta; Maria Lisa Dentici; Francesca Clementina Radio; Boris Keren; Constance F Wells; Christine Coubes; Annie Laquerrière; Jacqueline Aziza; Charlotte Dubucs; Sheela Nampoothiri; David Mowat; Millan S Patel; Ana Bracho; Francisco Cammarata-Scalisi; Alper Gezdirici; Alberto Fernandez-Jaen; Natalie Hauser; Yuri A Zarate; Katherine A Bosanko; Klaus Dieterich; John C Carey; Jessica X Chong; Deborah A Nickerson; Michael J Bamshad; Brendan H Lee; Xiang-Jiao Yang; James R Lupski; Philippe M Campeau
Journal:  Genet Med       Date:  2020-05-19       Impact factor: 8.822

4.  Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.

Authors:  Megan Yabumoto; Jessica Kianmahd; Meghna Singh; Maria F Palafox; Angela Wei; Kathryn Elliott; Dana H Goodloe; S Joy Dean; Catherine Gooch; Brianna K Murray; Erin Swartz; Samantha A Schrier Vergano; Meghan C Towne; Kimberly Nugent; Elizabeth R Roeder; Christina Kresge; Beth A Pletcher; Katheryn Grand; John M Graham; Ryan Gates; Natalia Gomez-Ospina; Subhadra Ramanathan; Robin Dawn Clark; Kimberly Glaser; Paul J Benke; Julie S Cohen; Ali Fatemi; Weiyi Mu; Kristin W Baranano; Jill A Madden; Cynthia S Gubbels; Timothy W Yu; Pankaj B Agrawal; Mary-Kathryn Chambers; Chanika Phornphutkul; John A Pugh; Kate A Tauber; Svetlana Azova; Jessica R Smith; Anne O'Donnell-Luria; Hannah Medsker; Siddharth Srivastava; Deborah Krakow; Daniela N Schweitzer; Valerie A Arboleda
Journal:  Mol Genet Genomic Med       Date:  2021-09-14       Impact factor: 2.183

Review 5.  The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.

Authors:  Philippe M Campeau; James T Lu; Brian C Dawson; Ivo F A C Fokkema; Stephen P Robertson; Richard A Gibbs; Brendan H Lee
Journal:  Hum Mutat       Date:  2012-07-12       Impact factor: 4.878

6.  An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature.

Authors:  Katrin Õunap; Sander Pajusalu; Olga Zilina; Tiia Reimand; Riina Žordania
Journal:  Clin Case Rep       Date:  2016-07-22
  6 in total

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