Literature DB >> 10319206

Robinow syndrome in monozygotic twins with normal stature.

J M Saraiva1, I Cordeiro, H G Santos.   

Abstract

Robinow syndrome was found in two monozygotic twins. We describe the clinical and radiographic manifestations in these patients, both with normal stature and one with omphalocele, with a follow-up of 13 years. Families with Robinow syndrome of both autosomal dominant and recessive inheritance have been reported. We apply the criteria suggested to assign isolated cases to one of the two forms and conclude that autosomal dominant inheritance is more likely.

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Year:  1999        PMID: 10319206

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


  3 in total

Review 1.  Robinow syndrome.

Authors:  M A Patton; A R Afzal
Journal:  J Med Genet       Date:  2002-05       Impact factor: 6.318

2.  DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

Authors:  Janson White; Juliana F Mazzeu; Alexander Hoischen; Shalini N Jhangiani; Tomasz Gambin; Michele Calijorne Alcino; Samantha Penney; Jorge M Saraiva; Hanne Hove; Flemming Skovby; Hülya Kayserili; Elicia Estrella; Anneke T Vulto-van Silfhout; Marloes Steehouwer; Donna M Muzny; V Reid Sutton; Richard A Gibbs; James R Lupski; Han G Brunner; Bregje W M van Bon; Claudia M B Carvalho
Journal:  Am J Hum Genet       Date:  2015-03-26       Impact factor: 11.025

3.  Robinow syndrome: a diagnosis at the fingertips.

Authors:  Chaya N Murali; Beth Keena; Elaine H Zackai
Journal:  Clin Dysmorphol       Date:  2018-10       Impact factor: 0.816

  3 in total

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