Literature DB >> 19363808

Mental retardation, facial anomalies, brachydactyly, cerebral angiomas, femoral nucleus necrosis: a new entity or Hall-Riggs syndrome?

Anna Ficcadenti1, Lucia Santoro, Valeria Petroni, Cecilia Carini, Orazio Gabrielli.   

Abstract

We report on a 4-year-old boy with mental retardation, facial and skeletal anomalies, cerebral angiomas, femoral nucleus necrosis, mild biochemical abnormalities. This complex of features resembles the Hall-Riggs syndrome but could represent a novel syndrome.

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Year:  2009        PMID: 19363808     DOI: 10.1002/ajmg.a.32805

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  1 in total

1.  Cerebrofacial venous anomalies, sinus pericranii, ocular abnormalities and developmental delay.

Authors:  B Macit; P E Burrows; S Yilmaz; D B Orbach; J B Mulliken; A I Alomari
Journal:  Interv Neuroradiol       Date:  2012-06-04       Impact factor: 1.610

  1 in total

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