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Research Article
Spectrum of the acrocallosal syndrome
Article first published online: 4 JAN 2002
DOI: 10.1002/ajmg.10236
Copyright © 2002 Wiley-Liss, Inc.
1552-4833/asset/cover.gif?v=1&s=9818ec8c89d0772bf0e752b15694c460afb83f9f "American Journal of Medical Genetics")
Additional Information
How to Cite
Koenig, R., Bach, A., Woelki, U., Grzeschik, K.-H. and Fuchs, S. (2002), Spectrum of the acrocallosal syndrome. Am. J. Med. Genet., 108: 7–11. doi: 10.1002/ajmg.10236
Publication History
- Issue published online: 16 JAN 2002
- Article first published online: 4 JAN 2002
- Manuscript Accepted: 24 APR 2000
- Manuscript Received: 16 NOV 1999
- Abstract
- Article
- References
- Cited By
Keywords:
- acrocallosal syndrome;
- agenesis corpus callosum;
- preaxial polydactyly;
- postaxial polydactyly;
- arachnoid cyst
Abstract
Acrocallosal syndrome (ACS) is an autosomal recessive condition, characterized by agenesis of the corpus callosum, pre- and postaxial polydactyly, minor craniofacial anomalies, and, in most patients, severe psychomotor retardation. We here report on three patients with ACS demonstrating a spectrum from mild to severe involvement. Two patients had only mild to moderate mental retardation at the age of 2½ and 4 years, respectively, with surprisingly good speech development. The third patient was severely affected and died at age 7 days because of persistent apnea. All three patients had agenesis of the corpus callosum, and large intracranial cysts, which in the third case was confirmed as a large arachnoid cyst at autopsy. Cranial cysts were also seen in 10/34 published cases of ACS. Thus, intracerebral cysts are a common finding in ACS and may serve in differentiating ACS from Greig cephalopolysyndactyly syndrome. © 2002 Wiley-Liss, Inc.