Ontology highlight
ABSTRACT:
SUBMITTER: Devriendt K
PROVIDER: S-EPMC1051348 | biostudies-literature | 1998 Jun
REPOSITORIES: biostudies-literature
Devriendt K K Stoffelen D D Pfeiffer R R Leys A A Fryns J P JP
Journal of medical genetics 19980601 6
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). ...[more]