Literature DB >> 22696705

Acrocallosal syndrome in a young hypertensive male.

Vishal V Ramteke1, Pramod A Darole, Zohaib Farooqui Shaikh, Namita J Padwal, Brijesh Agrawal, Makardhwaj S Shrivastava, Sandhya Kamath.   

Abstract

Acrocallosal syndrome is an extremely rare genetic disorder with autosomal recessive inheritance. It is characterised by moderate to severe mental retardation, hypotonia, agenesis of the corpus callosum and preaxial polydactyly involving both feet and the facial features like broad forehead and hypertelorism. The authors report a case of a young hypertensive male who presented with unprovoked seizures for the first time who had multiple craniofacial, digital dysmorphic features with moderate mental retardation. The diagnosis of acrocallosal syndrome was arrived at after neuroimaging showed agenesis of corpus callosum with interhemispheric cysts.

Entities:  

Mesh:

Year:  2011        PMID: 22696705      PMCID: PMC3089937          DOI: 10.1136/bcr.12.2010.3648

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  3 in total

1.  Genetic counseling in acrocallosal syndrome.

Authors:  Sunita Bijarnia; Ashok Baijal; I C Verma
Journal:  Indian J Pediatr       Date:  2003-02       Impact factor: 1.967

2.  Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome.

Authors:  W Courtens; E Vamos; C Christophe; A Schinzel
Journal:  Am J Med Genet       Date:  1997-03-03

3.  Schinzel acrocallosal syndrome.

Authors:  Sheffali Gulati; Shaji Menon; Madhulika Kabra; Veena Kalra
Journal:  Indian J Pediatr       Date:  2003-02       Impact factor: 1.967

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.