Congenital heart defects and skeletal malformation syndrome is very rare syndrome. Most of the patients had germline mutations in ABL1 gene. A 30-year-old gentleman presented with history congenital disease (ventricular septal defect) malformations which are typical CHDSKM. Patient also hemiplegia CHDSKMS. lactose intolerance since childhood. Patients were evaluated thoroughly to rule out other...

The heart is the first functioning organ to develop during embryogenesis. The formation of the heart is a tightly regulated and complex process, and alterations to its development can result in congenital heart defects. Mutations in sarcomeric proteins, such as alpha myosin heavy chain and cardiac alpha actin, have now been associated with congenital heart defects in humans, often with atrial s...

Congenital defects or diseases are abnormalities of structure or function present at birth. In cattle many of these defects of either genetic, environmental, or unknown cause—or due to environmental-genetic interaction—have been identified. The genetically caused diseases are mostly due to homozygosity of a simple autosomal recessive gene, meaning that the animal has received one defective gene...

arthrogryposis as a congenital malformation that refers to the fixed flexion of one or more joints as a result of stiffness or limited movements of multiple joints, change of posture and limb function due to permanent contracture of joints and wasting of muscles that usually occur at early stage of gestation. this report describes congenital arthrogryposis associated with musculoskeletal defect...