Association of external auditory canal atresia, vertical talus, and hypertelorism: confirmation of Rasmussen syndrome.
In 1979, Rasmussen et al. reported six members of a family with congenital, bilateral, symmetrical, and isolated subtotal atresia of the external auditory canal, bilateral foot abnormalities, and increased interocular distance. The family history suggested autosomal dominant inheritance of the syndrome. We report a 3-year-old girl whose symptoms are compatible with this diagnosis. Therefore, we suggest confirmation of the description by Rasmussen et al. as a distinct entity and suggest the term Rasmussen syndrome for this condition.
Julia
Sophie
S
Department of Medical Genetics, CHU Pellegrin, Bordeaux, France.
Pedespan
Jean Michel
JM
Boudard
Philippe
P
Barbier
Richard
R
Gavilan-Cellie
Isabelle
I
Chateil
Jean François
JF
Lacombe
Didier
D
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D004424:Ear Canal / Q000002:abnormalities*; D005260:Female; D005532:Foot Deformities, Congenital / Q000473:pathology; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D006972:Hypertelorism / Q000473:pathology*; D009154:Mutation; D013577:Syndrome; D013628:Talus / Q000002:abnormalities*