Literature DB >> 7102724

The acrocallosal syndrome.

M M Nelson, A J Thomson.   

Abstract

We report two unrelated patients, a three-year-old girl and an 88/12 year-old boy with the newly described "acrocallosal" syndrome. The main manifestations of the syndrome are unusual facial appearance, pre- and postaxial polydactyly, mental retardation, and absence of the corpus callosum. Cause remains unknown.

Entities:  

Mesh：

Year:  1982        PMID： 7102724     DOI： 10.1002/ajmg.1320120209

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  9 in total

1.  How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case.

Authors:  L Turolla; M Clementi; R Tenconi
Journal:  J Med Genet       Date:  1990-08       Impact factor: 6.318

2.  The acrocallosal syndrome.

Authors:  N Philip; N Apicella; I Lassman; S Ayme; J F Mattei; F Giraud
Journal:  Eur J Pediatr       Date:  1988-02       Impact factor: 3.183

3.  Four patients including two sisters with the acrocallosal syndrome (agenesis of the corpus callosum in combination with preaxial hexadactyly).

Authors:  A Schinzel
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

4.  Schinzel acrocallosal syndrome.

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

5.  Further delineation of the acrocallosal syndrome.

Authors:  Z Gelman-Kohan; J Antonelli; H Ankori-Cohen; H Adar; J Chemke
Journal:  Eur J Pediatr       Date:  1991-09       Impact factor: 3.183

6.  The acrocallosal syndrome and Greig syndrome are not allelic disorders.

Authors:  L A Brueton; K A Chotai; L van Herwerden; A Schinzel; R M Winter
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

7.  The acrocallosal syndrome in a Turkish boy.

Authors:  M Yüksel; M Caliskan; G Oğur; M Ozmen; G Dolunay; S Apak
Journal:  J Med Genet       Date:  1990-01       Impact factor: 6.318

8.  A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity.

Authors:  S Cataltepe; E Tuncbilek
Journal:  Eur J Pediatr       Date:  1992-04       Impact factor: 3.183

9.  The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.

Authors:  A Schinzel
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.