title: Oto-onycho-peroneal syndrome: confirmation of a syndrome.
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).
authors.affiliation: Centre for Human Genetics, University Hospital Leuven, Belgium.
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: D
authors.initials: D
authors.lastname: Stoffelen
authors.forename: R
authors.initials: R
authors.lastname: Pfeiffer
authors.forename: A
authors.initials: A
authors.lastname: Leys
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000173:Acromioclavicular Joint / Q000002:abnormalities*; D000328:Adult; D004423:Ear / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D009679:Nuclear Family; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome