Literature DB >> 1285272

Autosomal recessive Silver-Russell syndrome.

A S Teebi1.   

Abstract

Six children (5 male, 1 female) of normal first cousin Arab parents were found to have Silver-Russell syndrome. Manifestations included intrauterine and postnatal growth retardation, lateral asymmetry, relatively large head, small triangular face with prominent ears, clinodactyly of the fifth fingers, disproportionate toes, and normal psychomotor development. Intrafamilial variability was minimal. Parental consanguinity and affected siblings of both sexes strongly suggest autosomal recessive inheritance. Similar cases from literature are briefly reviewed.

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Year:  1992        PMID: 1285272

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


  7 in total

Review 1.  Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.

Authors:  M P Hitchins; P Stanier; M A Preece; G E Moore
Journal:  J Med Genet       Date:  2001-12       Impact factor: 6.318

2.  Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype.

Authors:  Jet Bliek; Paulien Terhal; Marie-José van den Bogaard; Saskia Maas; Ben Hamel; Georgette Salieb-Beugelaar; Marleen Simon; Tom Letteboer; Jasper van der Smagt; Hester Kroes; Marcel Mannens
Journal:  Am J Hum Genet       Date:  2006-03-01       Impact factor: 11.025

3.  Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.

Authors:  H Yoshihashi; K Maeyama; R Kosaki; T Ogata; M Tsukahara; Y Goto; J Hata; N Matsuo; R J Smith; K Kosaki
Journal:  Am J Hum Genet       Date:  2000-06-12       Impact factor: 11.025

Review 4.  Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology.

Authors:  Katrin Õunap
Journal:  Mol Syndromol       Date:  2016-07-06

5.  A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.

Authors:  K Hannula; M Lipsanen-Nyman; T Kontiokari; J Kere
Journal:  Am J Hum Genet       Date:  2000-12-08       Impact factor: 11.025

6.  Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients.

Authors:  H A Wollmann; T Kirchner; H Enders; M A Preece; M B Ranke
Journal:  Eur J Pediatr       Date:  1995-12       Impact factor: 3.183

Review 7.  Autosomal recessive disorders among Arabs: an overview from Kuwait.

Authors:  A S Teebi
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

  7 in total

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