F syndrome (acropectorovertebral syndrome) is a dominantly inherited skeletal dysplasia affecting the hands, feet, sternum, and lumbosacral spine, which has previously been described in only two families. Here we report a six generation Turkish family with a related but distinct dominantly inherited acropectoral syndrome. All 22 affected subjects have soft tissue syndactyly of all fingers and a...

 Deadline-based Workload Management for MapReduce Environments: Pieces of the Perfromance Puzzle. Abhishek Verma, Ludmila Cherkasova, Vijay S. Kumar, Roy H. Campbell

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...

ellis–van creveld (evc) syndrome, a form of skeletal and chondroectodermal dysplasia, is an autosomal recessive disorder characterized by a tetrad of disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, and heart defects. in the present article, we hereby present a case of a 13‑year‑old girl of indian ethnicity with evc syndrome with a remarkable number of classical oral and ...

Meckel syndrome (MKS) is a rare autosomal recessive disease causing perinatal lethality associated with a complex syndrome that includes occipital meningoencephalocele, hepatic biliary ductal plate malformation, postaxial polydactyly and polycystic kidneys. The gene mutated in type 1 MKS encodes a protein associated with the base of the cilium in vertebrates and nematodes. However, shRNA knockd...

UNLABELLED We present a case report and review of literature about slipping rib syndrome, a syndrome rarely recognized and often un or misdiagnosed. In literature there is no clear consensus about the diagnosis and treatment. We present a case of a 47 year old man who was diagnosed with slipping rib syndrome after a cycling incident 8 years ago. Also, we developed a flow chart according the dia...

ellis-van creveld syndrome is a very rare autosomal recessive skeletal dysplasia characterized by a short stature, short limbs, short ribs, postaxial polydactyly, dysplastic nails, multiple frenula, and congenital heart defects.  we describe a 22-year-old boy with a short stature, short limbs, short distal extremities, small teeth, short upper lip bound by frenula to the alveolar ridge, multipl...