Literature DB >> 3723552

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

S Ohdo, H Madokoro, T Sonoda, K Hayakawa.   

Abstract

We report two sisters with mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. A female paternal cousin has the same anomalies, but without congenital heart disease. The chromosomes of these patients are normal and the parents are non-consanguineous.

Entities:  

Mesh：

Year:  1986        PMID： 3723552      PMCID： PMC1049635          DOI： 10.1136/jmg.23.3.242

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


  2 in total

Review 1.  The fetal alcohol syndrome.

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

2.  A syndrome of mental and physical etardation, speech disorders, and peculiar facies in two sisters.

Authors:  O Mutchinick
Journal:  J Med Genet       Date:  1972-03       Impact factor: 6.318
  2 in total
  17 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.  The Ohdo blepharophimosis syndrome: a third case.

Authors:  L G Biesecker
Journal:  J Med Genet       Date:  1991-02       Impact factor: 6.318

Review 3.  A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.

Authors:  T Cai; D A Tagle; X Xia; P Yu; X X He; L Y Li; J H Xia
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

4.  Mental retardation with blepharophimosis.

Authors:  B Say; N Barber
Journal:  J Med Genet       Date:  1987-08       Impact factor: 6.318

5.  Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24.

Authors:  H S Harrar; S Jeffery; M A Patton
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

6.  Unknown syndrome: congenital heart disease, ptosis, hypodontia, and craniosynostosis.

Authors:  L Mehta; I Lewis; M A Patton
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318

7.  Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation.

Authors:  Siddaramappa J Patil; Puneeth H Somashekar; Anju Shukla; Satish Siddaiah; Venkatraman Bhat; Katta M Girisha; Pooja N Rao
Journal:  J Pediatr Genet       Date:  2017-04-24

8.  16p subtelomeric duplication: a clinically recognizable syndrome.

Authors:  Maria Cristina Digilio; Laura Bernardini; Anna Capalbo; Rossella Capolino; Maria Giulia Gagliardi; Bruno Marino; Antonio Novelli; Bruno Dallapiccola
Journal:  Eur J Hum Genet       Date:  2009-03-18       Impact factor: 4.246

9.  Mutations in MED12 cause X-linked Ohdo syndrome.

Authors:  Anneke T Vulto-van Silfhout; Bert B A de Vries; Bregje W M van Bon; Alexander Hoischen; Martina Ruiterkamp-Versteeg; Christian Gilissen; Fangjian Gao; Marloes van Zwam; Cornelis L Harteveld; Anthonie J van Essen; Ben C J Hamel; Tjitske Kleefstra; Michèl A A P Willemsen; Helger G Yntema; Hans van Bokhoven; Han G Brunner; Thomas G Boyer; Arjan P M de Brouwer
Journal:  Am J Hum Genet       Date:  2013-02-07       Impact factor: 11.025

10.  Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome.

Authors:  A Smith; I S Fraser; R P Shearman; P Russell
Journal:  J Med Genet       Date:  1989-07       Impact factor: 6.318
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