Literature DB >> 8092201

Acrocallosal syndrome in two African brothers born to consanguineous parents.

A L Christianson1, P A Venter, J L Du Toit, N Shipalana, G S Gericke.   

Abstract

We describe two mentally retarded brothers with craniofacial anomalies, polydactyly, and other clinical manifestations compatible with the acrocallosal syndrome (ACS). These are the first black patients from Africa with this diagnosis. They are also the fourth set of sibs described with ACS, and together with the parental consanguinity documented in this family, confirm autosomal recessive inheritance of this syndrome. The clinical manifestations in our patients confirm the intrafamilial variability of the syndrome. Postnatal onset of growth retardation is proposed as an additional manifestation of ACS.

Entities:  

Mesh:

Year:  1994        PMID: 8092201     DOI: 10.1002/ajmg.1320510204

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


  1 in total

1.  Diagnosing acrocallosal syndrome.

Authors:  Ashutosh Gupta; Seema Thakur; Shubha R Phadke
Journal:  Indian J Pediatr       Date:  2003-02       Impact factor: 1.967

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.