| Autor: |
Hendriks HJ; Department of Pediatrics, University Hospital, Nijmegen, The Netherlands., Brunner HG, Haagen TA, Hamel BC |
| Jazyk: |
angličtina |
| Zdroj: |
American journal of medical genetics [Am J Med Genet] 1990 Mar; Vol. 35 (3), pp. 443-6. |
| DOI: |
10.1002/ajmg.1320350325 |
| Abstrakt: |
Acrocallosal syndrome is an autosomal recessive disorder of brain malformation and complex polydactyly. We report on an additional patient with this disorder. It is suggested that increased birth weight and cerebellar hypoplasia occur in acrocallosal syndrome. The finding of an extra bone within the anterior fontanel in our patient suggests similarity to the Xt mouse mutant, which is homologous to Greig syndrome in man. This provides additional support for the hypothesis of allelism of the Greig and acrocallosal syndromes. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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