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...

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...

CONTEXT Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disease characterized by disproportionate short stature, narrow thorax, postaxial polydactyly, nail and tooth abnormalities and congenital heart disease. CASE REPORT The patient was a 22-year-old Caucasian man, the third child of consanguineous parents. He received the diagnosis of insulin-dependent diabetes mellitus (DM) ...

The association of lethal neonatal dwarfism, narrow thorax, and polydactyly is well established in the older literature particularly from the syndromes described by Jeune and Ellis-Van Creveld.' There has been renewed interest in this subject and the classification of short rib polydactyly since Majewski et al. described the features of a lethal congenital syndrome characterised by short ribs a...