An autosomal dominant facio-audio symphalangism syndrome with Klippel-Feil anomaly: a new variant of multiple synostoses.
A family is reported in which at least the propositus, his mother and his grandfather suffer from proximal symphalangism, conductive hearing loss due to stapes fixation, Klippel-Feil anomaly and abnormality of the nose with lack of alar flare. It is noteworthy that the first metacarpal bone is not abnormal. This association is delineated from two other "facio-audio-symphalangism" syndromes and from Wildervanck syndrome. Our observation confirms one previous description only by Pierson et al. (1981).
Pfeiffer
R A
RA
Institut für Humangenetik, Erlangen Nürnberg.
Rott
H D
HD
Angerstein
W
W
D000293:Adolescent; D000328:Adult; D000368:Aged; D002574:Cervical Vertebrae / Q000002:abnormalities; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005384:Finger Joint / Q000002:abnormalities*; D005799:Genes, Dominant / Q000235:genetics*; D006314:Hearing Loss, Conductive / Q000235:genetics*; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000235:genetics*; D008297:Male; D013580:Synostosis / Q000235:genetics*