causes pycnodysostosis, a cheaper genetic testing called Sanger sequencing can be employed to confirm the diagnosis. The treatment of pycnodysostosis is currently...
13 KB (1,417 words) - 07:40, 1 May 2024
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...
40 KB (3,794 words) - 14:07, 15 June 2024
Rubinstein–Taybi syndrome, Hajdu–Cheney syndrome, cartilage–hair hypoplasia, pycnodysostosis, acrodysostosis, and brachydactyly type D. Acquired racquet nail is...
4 KB (311 words) - 08:11, 15 May 2024
contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and...
15 KB (1,710 words) - 16:04, 7 November 2023
disease: osteogenesis imperfecta. Wormian bones may also be seen in: Pycnodysostosis Osteogenesis imperfecta Rickets "Kinky-hair" Menke's syndrome Cleidocranial...
4 KB (389 words) - 19:17, 16 April 2024
Aspartylglucosaminuria Fucosidosis Lysosomal transport diseases Cystinosis Pycnodysostosis Salla disease / sialic acid storage disease Infantile free sialic acid...
18 KB (1,819 words) - 05:23, 3 April 2024
noncollagenous proteins. Mutations in the cathepsin K gene are associated with pycnodysostosis, a hereditary osteopetrotic disease, characterised by a lack of functional...
26 KB (2,925 words) - 20:28, 17 May 2024
Toulouse-Lautrec was disabled, possibly due to a genetic disorder known as pycnodysostosis. His birth parents were cousins, so there is speculation that his health...
23 KB (2,962 words) - 20:08, 29 June 2024
Purpura, thrombotic thrombocytopenic Purpura Purtilo syndrome Pyaemia Pycnodysostosis Pyknoachondrogenesis Pyle disease Pyelonephritis Pyoderma gangrenosum...
24 KB (1,908 words) - 03:34, 11 January 2024
syndrome - Protrusio acetabuli - Pseudarthrosis - Pulled hamstring - Pycnodysostosis - Pyogenic osteomyelitis Quadriceps tendon rupture Radius fracture...
17 KB (1,534 words) - 16:16, 20 July 2022