Literature DB >> 3725452

The Coffin-Siris syndrome in two siblings.

P Franceschini, M Cirillo Silengo, R Bianco, M Biagioli, A Guala, G Lopez Bell.   

Abstract

Two sisters with Coffin-Siris syndrome, born to healthy unrelated parents, are reported. The accurate X-ray evaluation of the two patients allows the identification of some new features and a better delineation of the radiological phenotype. Our two cases confirm the proposed autosomal recessive inheritance of the syndrome.

Entities:  

Mesh：

Year:  1986        PMID： 3725452     DOI： 10.1007/bf02386876

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  3 in total

1.  Mental retardation with absent fifth fingernail and terminal phalanx.

Authors:  G S Coffin; E Siris
Journal:  Am J Dis Child       Date:  1970-05

2.  Coffin-Siris syndrome.

Authors:  N Barber; B Say
Journal:  Am J Dis Child       Date:  1978-10

3.  The Coffin-Siris syndrome: five new cases including two siblings.

Authors:  J C Carey; B D Hall
Journal:  Am J Dis Child       Date:  1978-07
  3 in total
  5 in total

1.  The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

Authors:  Samantha A Schrier; Joann N Bodurtha; Barbara Burton; Albert E Chudley; Mary Anne D Chiong; Maria Gabriella D'avanzo; Sally Ann Lynch; Antonio Musio; Dmitriy M Nyazov; Pedro A Sanchez-Lara; Stavit A Shalev; Matthew A Deardorff
Journal:  Am J Med Genet A       Date:  2012-06-18       Impact factor: 2.802

Review 2.  Coffin-Siris syndrome.

Authors:  P Levy; M Baraitser
Journal:  J Med Genet       Date:  1991-05       Impact factor: 6.318

3.  Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report.

Authors:  Deepak Goyal; Dinesh K Yadav; Umesh Shukla; Sidharth K Sethi
Journal:  J Med Case Rep       Date:  2010-11-08

4.  The Coffin-Siris syndrome.

Authors:  Q H Qazi; L S Heckman; D Markouizos; R S Verma
Journal:  J Med Genet       Date:  1990-05       Impact factor: 6.318

5.  Congenital Generalized Hypertrichosis, Gingival Hyperplasia, a Coarse Facies with Constriction Bands: A Rare Association.

Authors:  Aditya Kumar Bubna; Mahalakshmi Veeraraghavan; Sankarasubramaniam Anandan; Sudha Rangarajan
Journal:  Int J Trichology       Date:  2015 Apr-Jun
  5 in total

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