causes pycnodysostosis, a cheaper genetic testing called Sanger sequencing can be employed to confirm the diagnosis. The treatment of pycnodysostosis is currently...

the time of his adolescence and, possibly due to the rare condition pycnodysostosis, was very short as an adult due to his undersized legs. In addition...

Rubinstein–Taybi syndrome, Hajdu–Cheney syndrome, cartilage–hair hypoplasia, pycnodysostosis, acrodysostosis, and brachydactyly type D. Acquired racquet nail is...

contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and...

disease: osteogenesis imperfecta. Wormian bones may also be seen in: Pycnodysostosis Osteogenesis imperfecta Rickets "Kinky-hair" Menke's syndrome Cleidocranial...

Aspartylglucosaminuria Fucosidosis Lysosomal transport diseases Cystinosis Pycnodysostosis Salla disease / sialic acid storage disease Infantile free sialic acid...

Lautrec was disabled, possibly due to a genetic disorder known as pycnodysostosis. His birth parents were cousins, so there is speculation that his health...

Purpura, thrombotic thrombocytopenic Purpura Purtilo syndrome Pyaemia Pycnodysostosis Pyknoachondrogenesis Pyle disease Pyelonephritis Pyoderma gangrenosum...

noncollagenous proteins. Mutations in the cathepsin K gene are associated with pycnodysostosis, a hereditary osteopetrotic disease, characterised by a lack of functional...

included on the spectrum of developmental bone dysplasias including pycnodysostosis and osteopoikilosis. The disorder tends to be unilateral and monostotic...