BACKGROUND: Ciliopathies include the large group of hereditary diseases caused by mutations in genes encoding primary cilia components. The largest type skeletal ciliopathies is short-rib thoracic dysplasia.
 AIM: This study describes clinical and genetic characteristics Russian patients with STRD or without polydactyly DYNC2H1, DYNC2I2, IFT80, IFT140.
 MATERIALS AND METHODS: A compre...

Thumb has a critical role in the hand function. It is the most important digit for pinching and grasping. Therefore, thumb amputation demands its replantation or reconstruction to restore the hand functions. A case of hand injury which involved multiple digits along with amputation of thumb is reported. The thumb had amputation level just distal to Metacarpophalangeal joint (MPj) along with amp...

A prospective study was undertaken of fifty-one patients who were randomly assigned to treatment with either a long or a short thumb-spica cast for a non-displaced fracture of the carpal scaphoid. The duration of follow-up was at least until union; the average follow-up was twelve months. Twenty-eight fractures were treated with a long thumb-spica cast and twenty-three, with a short thumb-spica...

McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. Bardet-Biedl syndrome (BBS) is the generic name for a genetically heterogeneous group of autosomal recessive disorders characterised by retinal dystrophy or retinitis pigmen...