causes pycnodysostosis, a cheaper genetic testing called Sanger sequencing can be employed to confirm the diagnosis. The treatment of pycnodysostosis is currently...
13 KB (1,432 words) - 23:30, 13 August 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 (3,818 words) - 21:53, 23 August 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 (1,713 words) - 02:25, 14 August 2024
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
Lautrec was disabled, possibly due to a genetic disorder known as pycnodysostosis. His birth parents were cousins, so there is speculation that his health...
29 KB (3,742 words) - 14:21, 27 August 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
noncollagenous proteins. Mutations in the cathepsin K gene are associated with pycnodysostosis, a hereditary osteopetrotic disease, characterised by a lack of functional...
26 KB (2,918 words) - 00:49, 26 August 2024
included on the spectrum of developmental bone dysplasias including pycnodysostosis and osteopoikilosis. The disorder tends to be unilateral and monostotic...
6 KB (511 words) - 07:41, 27 December 2023