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Oto-onycho-peroneal syndrome: confirmation of a syndrome
K Devriendt1, D Stoffelen, R Pfeiffer
1Centre for Human Genetics, University Hospital Leuven, Belgium.
Journal of Medical Genetics
|June 27, 1998
Abstract:
We report two sibs with a similar syndrome of abnormal external ears, peculiar facial features, nail hypoplasia, a bilateral fibrous fusion of the outer third of the clavicle and the scapular spine, and the absence of a normal acromioclavicular joint. The present patients represent the fourth and fifth cases of the oto-onycho-peroneal syndrome (MIM 259780).