Literature DB >> 3430551

Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation.

I D Young1, K Simpson.   

Abstract

We present a female infant with (1) abnormal facies: microcephaly, blepharophimosis, small, low set, posteriorly rotated ears, bulbous nose, carp shaped mouth, micrognathia; (2) congenital heart abnormalities: large atrial and ventricular septal defects; (3) congenital hypothyroidism; (4) severe global retardation.

Entities:  

Mesh：

Year:  1987        PMID： 3430551      PMCID： PMC1050356          DOI： 10.1136/jmg.24.11.715

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


  2 in total

1.  A computerised data base for the diagnosis of rare dysmorphic syndromes.

Authors:  R M Winter; M Baraitser; J M Douglas
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

2.  Congenital anomalies associated with hypothyroidism.

Authors:  J S Bamforth; I Hughes; J Lazarus; R John
Journal:  Arch Dis Child       Date:  1986-06       Impact factor: 3.791
  2 in total
  8 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.  Unknown syndrome in sibs: microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities.

Authors:  G E Holmes; R N Schimke
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318

3.  Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient.

Authors:  D P Cavalcanti
Journal:  J Med Genet       Date:  1989-12       Impact factor: 6.318

4.  Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome).

Authors:  D T Bonthron; K M Barlow; A M Burt; D G Barr
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

Review 5.  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

6.  Further delineation of the KAT6B molecular and phenotypic spectrum.

Authors:  Tamsin Gannon; Rahat Perveen; Hélene Schlecht; Simon Ramsden; Beverley Anderson; Bronwyn Kerr; Ruth Day; Siddharth Banka; Mohnish Suri; Siren Berland; Michael Gabbett; Alan Ma; Stan Lyonnet; Valerie Cormier-Daire; Rüstem Yilmaz; Guntram Borck; Dagmar Wieczorek; Britt-Marie Anderlid; Sarah Smithson; Julie Vogt; Heather Moore-Barton; Pelin Ozlem Simsek-Kiper; Isabelle Maystadt; Anne Destrée; Jessica Bucher; Brad Angle; Shehla Mohammed; Emma Wakeling; Sue Price; Amihood Singer; Yves Sznajer; Annick Toutain; Damien Haye; Ruth Newbury-Ecob; Melanie Fradin; Julie McGaughran; Beyhan Tuysuz; Mark Tein; Katelijne Bouman; Tabib Dabir; Jenneke Van den Ende; Ho Ming Luk; Daniela T Pilz; Jacqueline Eason; Sally Davies; Willie Reardon; Livia Garavelli; Orsetta Zuffardi; Koen Devriendt; Ruth Armstrong; Diana Johnson; Martine Doco-Fenzy; Emilia Bijlsma; Sheila Unger; Hermine E Veenstra-Knol; Jürgen Kohlhase; Ivan F M Lo; Janine Smith; Jill Clayton-Smith
Journal:  Eur J Hum Genet       Date:  2014-11-26       Impact factor: 4.246

7.  KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup).

Authors:  Yo Hamaguchi; Mikihiro Aoki; Satoshi Watanabe; Hiroyuki Mishima; Koh-Ichiro Yoshiura; Hiroyuki Moriuchi; Sumito Dateki
Journal:  Hum Genome Var       Date:  2019-12-13

Review 8.  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
  8 in total

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