Kenny-Caffey syndrome in two sibs born to consanguineous parents: Evidence for an autosomal recessive variant

Camptodactyly, myopia, and fibrosis of t

Camptodactyly, myopia, and fibrosis of the medial rectus of the eye in two sibs born to consanguineous parents: Autosomal recessive entity?

✍ Kilic, ?lknur; Kilic, B. Alper; Ergin, Hacer; Ayg�n, Meral G�nay; Aksit, M. Arif 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 1 views

Unaffected but consanguineous parents suggest autosomal recessive inheritance of a previously apparently undescribed syndrome of camptodactyly, fibrosis of the medial rectus muscle of the eye, severe myopia, facial anomalies, joint contractures, and mild scoliosis in a 13-year-old Turkish girl and h