CASE REPORTS
LETTER
RESEARCH SUPPORT, NON-U.S. GOV'T
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Absence of nasal bone and brachydactyly: a probable new familial syndrome.

Gene 2013 September 16
Brachydactyly is a relatively common congenital abnormality and can be associated with many other malformations. However, brachydactyly in association with absence of nasal bone is rare. Two Chinese siblings with a combination of nasal bone absence and brachydactyly are presented, apparently without other abnormalities. This combination of features do not fit into any previously described syndrome and we suggest that this case represents a new familial syndrome. Molecular genetics screening didn't revealed any specific pathogenic variants in the two siblings.

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