Absence of nasal bone and brachydactyly: A probable new familial syndrome |
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Authors: | Hong Guo Rui Heng Wang Yun Bai Dong Yun Yang |
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Affiliation: | 1. Department of Medical Genetics, College of Basic Medical Science, Third Military Medical University, Chongqing 400038, PR China;2. Department of Plastic Surgery, Southwest Hospital, Third Military Medical University, Chongqing 400038, PR China |
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Abstract: | 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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Keywords: | OMIM, Online Mendelian Inheritance in Man CT, Computed Tomography CGH, Comparative Genomic Hybridization HOXD13, Homeobox D13 CNVs, Copy Number Variations FND1, Frontonasal Dysplasia-1 GCM syndrome, Gorlin-Chaudhry-Moss syndrome |
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