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| ID:
538386.0,
MPI für molekulare Genetik / Research Group Development and Disease |
| Brachydactyly type A1 with short humerus and associated skeletal features. |
| Authors: | Lacombe, D.; Delrue, M. A.; Rooryck, C.; Morice-Picard, F.; Arveiler, B.; Maugey-Laulom, B.; Mundlos, S.; Toutain, A.; Chateil, J. F. | | Language: | English | | Date of Publication (YYYY-MM-DD): | 2010-12-01 | | Title of Journal: | American Journal of Medical Genetics Part A | | Journal Abbrev.: | Am J Med Genet A | | Volume: | 152A | | Issue / Number: | 12 | | Start Page: | 3016 | | End Page: | 3021 | | Copyright: | © 2010 Wiley-Liss, Inc. | | Review Status: | not specified | | Audience: | Experts Only | | Abstract / Description: | We report on a three-generation family affected with an osteochondrodysplasia transmitted as an autosomal dominant trait. The phenotype consists of short humerus, curved radius with accessory ossification centre at the proximal third of ulna, variable short stature and brachydactyly, and has not been reported to the best of our knowledge. The brachydactyly falls into the brachydactyly A1 category (especially short 2nd, 4th, and 5th middle phalanges). A unique feature in one family member is triphalangeal thumbs. Vertebrae are normal. Mental development is normal and deafness is seen in some of the family members. A mutation was excluded by sequencing the entire coding regions of the IHH gene encoding the Indian Hedgehog protein and the GDF5 gene. This condition is a novel chondrodyplasia phenotype or possibly one end of the spectrum of the brachydactyly A1. | | Free Keywords: | brachydactyly;
short humerus;
osteochondrodysplasia;
deafness;
triphalangeal thumbs | | Comment of the Author/Creator: | Correspondence: Didier Lacombe, Service de Génétique Médicale, Hôpital Pellegrin, Ecole de sage-femmes 3° étage, Place Amélie Raba-Léon, 33076 Bordeaux Cedex, France.
Email: Didier Lacombe (didier.lacombe@chu-bordeaux.fr) | | External Publication Status: | published | | Document Type: | Article |
| Communicated by: | Stefan Mundlos | | Affiliations: | MPI für molekulare Genetik
| | External Affiliations: | 1.Department Genetics, CHU Bordeaux, Université Bordeaux 2, Bordeaux Cedex, France;
2.Department Pediatric Radiology, CHU Bordeaux, Université Bordeaux 2, Bordeaux Cedex, France;
3.Dept Genetics, Charity University Hospital, Berlin, Germany;
4.Department Genetics, CHU Tours, Tours, France.
| | Identifiers: | ISSN:1552-4825 [ID No:1]
URL:http://www.ncbi.nlm.nih.gov/pubmed/21077205 [ID No:2]
DOI:10.1002/ajmg.a.33761 [ID No:3] |
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