Literature DB >> 6705253

A new psychomotor retardation syndrome with peculiar facies and marfanoid habitus.

R Fragoso, J M Cantú.   

Abstract

We studied four sibs, two males and two females, who presented psychomotor retardation, typical flat facies and some features of the Marfan phenotype such as tall stature, long and slim limbs, arm span larger than height, "arachnodactyloid" hands and feet, little subcutaneous fat and muscle hypotonia. It is concluded that the aggregate of morphoneurological anomalies constitute a new syndrome probably inherited in an autosomal recessive fashion.

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Year:  1984        PMID: 6705253     DOI: 10.1111/j.1399-0004.1984.tb00483.x

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


  2 in total

1.  A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.

Authors:  L E Becerra-Solano; J Butler; G Castañeda-Cisneros; D E McCloskey; X Wang; A E Pegg; C E Schwartz; J Sánchez-Corona; J E García-Ortiz
Journal:  Am J Med Genet A       Date:  2009-03       Impact factor: 2.802

2.  Interstitial deletions at 6q14.1q15 associated with developmental delay and a marfanoid phenotype.

Authors:  R B Lowry; J E Chernos; M S Connelly; J P H Wyse
Journal:  Mol Syndromol       Date:  2013-08-01
  2 in total

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