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Cushing's symphalangism
Also known as:
Vessel’s syndrome
Description:
A syndrome of symphalangism with fusion of the midphalangeal joints; fusion of elbow and carpal and tarsal bones; absence of the normal articular folds. One of the most characteristic features is conductive deafness, due to fusion of the ossicles of the middle ear. There is limitation of motion of the elbow, wrist, and ankle joints; abnormal gait, brachydactyly, cutaneous syndactyly, peculiar facies marked by hypoplasia of the alae nasi, long and narrow face, thin upper lip, and broad nasal bridge; and occasional strabismus. Inheritance is autosomal dominant with variable expression.
First described by in 1900 by the German radiologist Georg Joachimsthal (1863-1914), Cushing in 1916, Elliot S. Vessel in 1960, by Arthur K. Strasburger et al in 1965. The concept of multiple stenosis stems from the French paediatrician and medical geneticist Pierre Maroteaux (1926), et al, Paris, 1972.
Bibliography:
- G. Joachimsthal:
Die angeborenen Verbildungen der oberen Extremitäten. Hamburg, 1900.
- H. W. Cushing:
Hereditary anchylosis of proximal phalanges joints (symphalangism).
Genetics, Austin, Texas, 1916, 1: 90-106.
- E. S. Vessel:
Symphalangism, strabism and hearing loss in mother and daughter.
New England Journal of Medicine, Boston, 1960, 263: 839-842.
- A. K. Strasburger, M. R. Hawkins, R. Eldridge, R. L. Hargrave, V. A. McKusick:
Symphalangism: genetic and clinical aspects.
Bulletin of the Johns Hopkins Hospital, Baltimore, 1965, 117: 108-127.
- P. Maroteaux, J. P. Bouvet, M. L. Briard:
La maladie des synostose multiples. Presse médicale, Paris, 1972, 1: 3041-3047.
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