Article
Nager acrofacial dysostosis: male-to-male transmission in 2 families.
American journal of medical genetics - 1 Oct 1991
Aylsworth A S, Lin A E, Friedman P A
Abstract excerpt
We describe 2 unrelated families with male-to-male transmission of Nager syndrome. All 5 affected individuals have moderate expression of the phenotype. One affected boy also has Hirschsprung disease. Although Nager acrofacial dysostosis usually occurs sporadically, both recessive and dominant in...
Topics
- Abnormalities, Multiple
- Genes, Dominant
- Hirschsprung Disease
- Humans
- Infant
- Infant, Newborn
- Male
- Mandibulofacial Dysostosis
- Neural Crest
- Phenotype
- Syndrome
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