Literature DB >> 9383028

Is the frequency of Robinow syndrome relatively high in Turkey? Four more case reports.

S Akşit1, H Aydinlioglu, G Dizdarer, S Caglayan, D Bektaşlar, A Cin.   

Abstract

We describe the clinical features of Robinow syndrome in the children of four Turkish couples. All the patients had cardinal features of this condition, such as short stature, frontal bossing, hypertelorism, short upturned nose with anteverted nares, micrognathia, mesomelic shortening of the forearms, vertebral and costal anomalies and hypoplastic genitalia. In contrast to reports in the literature, one patient showed extensive webbing of the toes and epigastric hernia. Parental consanguinity was present in two of the four cases. To our knowledge, at least 80 cases have been reported in the literature to date, including 19 cases born to Turkish couples in addition to our four cases. The evidence suggests that the frequency of Robinow syndrome is relatively higher in Turkey than in other areas of the world.

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Year:  1997        PMID: 9383028     DOI: 10.1111/j.1399-0004.1997.tb02552.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  2 in total

1.  Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound.

Authors:  Bolette F Jeppesen; Hanne B Hove; Sven Kreiborg; Nuno V Hermann; Tron A Darvann; Finn Stener Jørgensen
Journal:  Clin Case Rep       Date:  2017-05-16

2.  Robinow syndrome.

Authors:  Ss Suresh
Journal:  Indian J Orthop       Date:  2008-10       Impact factor: 1.251

  2 in total

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