Literature DB >> 17515308

Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited.

S B Wortmann1, R Rodenburg, B Schwahn, J A M Smeitink, E Morava.   

Abstract

We report on a patient with congenital distal limb contractures, characteristic face, prominent metopic sutures, narrow forehead, severe psychomotor and growth retardation, white matter lesions and failure to thrive. The child has many overlapping features with those reported previously by Chitayat. We suggest that the central nervous anomalies are responsible for the congenital contractures in Chitayat syndrome.

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Year:  2007        PMID: 17515308

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  1 in total

1.  MAGEL2-related disorders: A study and case series.

Authors:  Jameson Patak; James Gilfert; Melissa Byler; Vamsee Neerukonda; Isabelle Thiffault; Laura Cross; Shivarajan Amudhavalli; Marta Pacio-Miguez; Maria Palomares-Bralo; Sixto Garcia-Minaur; Fernando Santos-Simarro; Zoe Powis; Wendy Alcaraz; Sha Tang; Julie Jurgens; Brenda Barry; Eleina England; Elizabeth Engle; Jonathon Hess; Robert R Lebel
Journal:  Clin Genet       Date:  2019-08-22       Impact factor: 4.438

  1 in total

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