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Brachydactyly type A1 with short humerus and associated skeletal features.


Mundlos,  S.
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Lacombe, D., Delrue, M. A., Rooryck, C., Morice-Picard, F., Arveiler, B., Maugey-Laulom, B., et al. (2010). Brachydactyly type A1 with short humerus and associated skeletal features. American Journal of Medical Genetics Part A, 152A(12), 3016-3021. doi:10.1002/ajmg.a.33761.

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.