Oto-onycho-peroneal syndrome: confirmation of a syndrome.
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).
Devriendt
K
K
Centre for Human Genetics, University Hospital Leuven, Belgium.
Stoffelen
D
D
Pfeiffer
R
R
Leys
A
A
Fryns
J P
JP
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