Familial camptodactyly with taurinuria.

نویسندگان

N C Nevin

L J Hurwitz

D W Neill

چکیده

Camptodactyly is a permanent flexion contracture of the fingers at the proximal interphalangeal joints which may be familial or sporadic (Landouzy, I906; Gates, 1946). In practically all instances it affects the little finger. In addition the ring, middle, and index fingers may be involved. It is usually bilateral. Although there is no limitation to further flexion of the fingers, complete extension is impossible. The flexed fingers which are slender and tapering have a sluggish peripheral circulation. The condition has been described also as congenital contracture of the fingers (Adams, I89I; Neuhof and Oppenheimer, 19I4), campylodactyly (Oldfield, 1956), palmar clinodactyly, and congenital Dupuytren's contracture (Currarino and Waldman, I964). Several authors have referred to the anomaly as streblomicrodactyly (Schmidt, 1921; Hefner, I924, 1929, I94I; Ritterskamp, I936; Moore and Messina, I936; Ashley, I947): this, however, applies to the condition in the little fingers, but where one or more fingers are affected camptodactyly is a more appropriate term (Stoddard, I939; Dutta, I965). Parish, Horn, and Thompson (I963) described a family where io females in 3 generations had an unusual flexion deformity of the fingers and thumb (which they termed streblodactyly) and aminoaciduria. Two other unaffected females but no males tested in the family also had aminoaciduria. This paper describes 4 unrelated families (Fig. i) in which certain members had a permanent flexion contracture of the fingers also associated with an aminoaciduria.

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