Mehmet ERDURAN, Jülide ALTINIŞIK, Gökhan MERİÇ, Ali Engin ULUSAL, Devrim AKSEKİ

BİR AİLEDEKİ KAMPTODAKTİLİ VE KİRNER DEFORMİTESİ

Kirner deformitesi ve kamptodaktili elin nadir görülen konjenital deformiteleridir ve genellikle bağımsız anomaliler olarak görülmektedir. Kirner deformitesi 5.parmak parmak distal falanksının değişik derecelerde palmar ve radial deviasyonu ile karakterizedir ve distal interfalangeal eklemde şişlik ve 5. parmak tırnağında dismorfik değişikliklerle birlikte görülür. Kamptodaktili bir parmak deformitesidir ve bir ya da birçok parmağın proksimal interfalangeal ekleminin travma olmaksızın fleksiyon kontraktürü ve buna bağlı etkilenen parmaklarda volar eğim ile karakterizedir. Tüm parmaklar etkilenebilmesine rağmen en sık 5. parmak etkilenir. Bu iki hastalığın kombinasyonuna sahip bir aile daha önce rapor edilmedi. Bu yazımızda kirner deformitesi ve kamptodaktili’nin ortak bir genetik faktöre sahip olabileceği ön görülen bir aile sunuduk.

Anahtar Kelimeler:

Kamptodaktili, Kirner deformitesi

CAMPTODACTYLY AND KIRNER’S DEFORMITY IN ONE FAMILY

Kirner’s deformity and camptodactyly are rare congenital hand deformities usually occurring independently. Kirner’s deformity is characterized by palmar and radial deviation of the distal phalanx of the little finger with a varying degree of rotation and a small, dysmorphic watch-glass nail associated with swelling of the distal interphalangeal joint. Camptodactyly is a non-traumatic flexion contracture of the proximal interphalangeal joints of one or more fingers, resulting in a permanent volar inclination of the affected digits. Little finger is the most frequently affected one, but additional fingers may also be involved. The combination of these two entities in a family had not been previously reported. The family presented here suggests that Kirner’s deformity and camptodactyly may have a common genetic factor.

Keywords:

Kamptodactyly, Kirner’s deformity,

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