| Autor: |
Chemke, J, Mogilner, B M, Ben-Itzhak, I, Zurkowski, L, Ophir, D |
| Zdroj: |
Journal of Medical Genetics; Apr1988, Vol. 25 Issue 4, p230-232, 3p, 4 Black and White Photographs |
| Abstrakt: |
Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe micrognathia, malar hypoplasia, and radial limb defects. Most cases are sporadic, but autosomal recessive inheritance has been suggested. A family is reported in which two sibs are affected by this syndrome, presenting further evidence for autosomal recessive inheritance. The recognition of this syndrome as a distinct entity has important implications. After the birth of a child with orofacial malformations suggestive of mandibulofacial dysostosis, an exact diagnosis is essential before genetic counselling can be offered. [ABSTRACT FROM PUBLISHER] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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