Literature DB >> 2420495

Congenital cutis laxa with retardation of growth and motor development: a recessive disorder of connective tissue with male lethality.

J Allanson, W Austin, F Hecht.   

Abstract

A syndrome of cutis laxa, ligamentous laxity and delayed motor development has been reported in 13 children. All are girls. Four are from Saudi Arabia. Another Saudi Arabian girl, the product of a consanguineous union, is described with intrauterine growth retardation, delayed closure of the anterior fontanel, slow motor development, cutis laxa and ligamentous laxity. The syndrome appears to be an autosomal recessive disorder of connective tissue, with male lethality.

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Year:  1986        PMID: 2420495     DOI: 10.1111/j.1399-0004.1986.tb01236.x

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


  4 in total

Review 1.  Disorders of lysosomal acidification-The emerging role of v-ATPase in aging and neurodegenerative disease.

Authors:  Daniel J Colacurcio; Ralph A Nixon
Journal:  Ageing Res Rev       Date:  2016-05-16       Impact factor: 10.895

2.  Congenital cutis laxa with a dominant inheritance and early onset emphysema.

Authors:  E Corbett; H Glaisyer; C Chan; B Madden; A Khaghani; M Yacoub
Journal:  Thorax       Date:  1994-08       Impact factor: 9.139

3.  Sotos syndrome and cutis laxa.

Authors:  S P Robertson; A Bankier
Journal:  J Med Genet       Date:  1999-01       Impact factor: 6.318

4.  A rare case report: SCARF syndrome.

Authors:  Masoume Rahimpour; Mohammad Bager Sohrabi; Sulmaz Kalhor; Hossein Ali Khosravi; Poone Zolfaghari; Elahe Yahyaei
Journal:  Clin Case Rep       Date:  2014-03-16
  4 in total

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