A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5
A Thai girl with a unique combination of limb and craniofacial anomalies is reported. Manifestations include blepharoptosis; prominent nose; hypodontia; multiple, hyperplastic frenula; and dysplastic ears. Limb anomalies include short stature, postaxial polydactyly of both hands and the left foot, p...
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2014
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th-cmuir.6653943832-29672014-08-30T02:25:36Z A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5 Kantaputra P.N. Pongprot Y. Praditsap O. Pho-iam T. Limwongse C. A Thai girl with a unique combination of limb and craniofacial anomalies is reported. Manifestations include blepharoptosis; prominent nose; hypodontia; multiple, hyperplastic frenula; and dysplastic ears. Limb anomalies include short stature, postaxial polydactyly of both hands and the left foot, proximal and distal symphalangism of fingers, and congenital absence of the distal phalanges of toes 2-5. Mutation analyses of NOG and GDF5, the genes responsible for symphalangism-related syndromes, were negative. © 2003 Wiley-Liss, Inc. 2014-08-30T02:25:36Z 2014-08-30T02:25:36Z 2003 Article 15524825 12838559 AJMGD http://www.scopus.com/inward/record.url?eid=2-s2.0-0041322518&partnerID=40&md5=fa76b9d4a365da8926fa090229bb1f5e http://www.ncbi.nlm.nih.gov/pubmed/12838559 http://cmuir.cmu.ac.th/handle/6653943832/2967 English |
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English |
| description |
A Thai girl with a unique combination of limb and craniofacial anomalies is reported. Manifestations include blepharoptosis; prominent nose; hypodontia; multiple, hyperplastic frenula; and dysplastic ears. Limb anomalies include short stature, postaxial polydactyly of both hands and the left foot, proximal and distal symphalangism of fingers, and congenital absence of the distal phalanges of toes 2-5. Mutation analyses of NOG and GDF5, the genes responsible for symphalangism-related syndromes, were negative. © 2003 Wiley-Liss, Inc. |
| format |
Article |
| author |
Kantaputra P.N. Pongprot Y. Praditsap O. Pho-iam T. Limwongse C. |
| spellingShingle |
Kantaputra P.N. Pongprot Y. Praditsap O. Pho-iam T. Limwongse C. A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5 |
| author_facet |
Kantaputra P.N. Pongprot Y. Praditsap O. Pho-iam T. Limwongse C. |
| author_sort |
Kantaputra P.N. |
| title |
A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5 |
| title_short |
A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5 |
| title_full |
A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5 |
| title_fullStr |
A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5 |
| title_full_unstemmed |
A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5 |
| title_sort |
new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of nog and gdf5 |
| publishDate |
2014 |
| url |
http://www.scopus.com/inward/record.url?eid=2-s2.0-0041322518&partnerID=40&md5=fa76b9d4a365da8926fa090229bb1f5e http://www.ncbi.nlm.nih.gov/pubmed/12838559 http://cmuir.cmu.ac.th/handle/6653943832/2967 |
| _version_ |
1681419959550345216 |