Literature DB >> 3970064

Duplication of hands and feet, multiple joint dislocations, absence of corpus callosum and hypsarrhythmia: acrocallosal syndrome?

A Sanchis, L Cerveró, A Martínez, C Valverde.   

Abstract

We describe a 14-month-old female infant with absence of corpus callosum, atrophy of optic nerve, peculiar face, complex polydactyly, multiple joint abnormalities, and femoral shortness. The similarities to and differences from previously reported cases of this kind suggest that our patient has a new type of acrocallosal syndrome.

Entities:  

Mesh:

Year:  1985        PMID: 3970064     DOI: 10.1002/ajmg.1320200115

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


  7 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.  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

4.  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

5.  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

6.  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

7.  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

  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.