[Acrodysostosis: an autosomal inherited form of peripheral dysostosis].
We report a 13-year-old boy with peripheral dysostosis, nasal hypoplasia, brachydactyly and a tracheal stenosis of unknown origin. Acrodysostosis is usually caused by an autosomal gene, but in this case it was probably due to a new mutation. The frequently described mental retardation is not essential feature. Ectopic calcification has not been previously reported.
Becker
S
S
HNO-Klinik, Medizinischen Hochschule Hannover.
Mausolf
A
A
Laszig
R
R
D000293:Adolescent; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003394:Craniofacial Dysostosis / Q000235:genetics; D004413:Dysostoses / Q000000981:diagnostic imaging / Q000235:genetics*; D005528:Foot / Q000000981:diagnostic imaging; D005799:Genes, Dominant; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D009666:Nose / Q000002:abnormalities; D011859:Radiography; D014135:Tracheal Stenosis / Q000235:genetics
Akrodysostose: autosomal vererbte Form der peripheren Dysostose.