2024年1月28日 · Toulouse-Lautrec syndrome is a rare genetic syndrome that causes changes in the face, hands, and other parts of the body, as well as brittle bones. There are treatment …

Pycnodysostosis (from Greek πυκνός (puknos) 'dense' dys- 'defective' and -ostosis 'condition of the bone' [1]) is a lysosomal storage disease of the bone caused by a mutation in the gene …

2020年11月5日 · Pycnodysostosis is also sometimes referred to as "Toulouse-Lautrec syndrome," after the French artist Henri de Toulouse-Lautrec (1864-1901), who was retrospectively …

2023年3月17日 · Pycnodysostosis is perhaps best known as the diagnosis given retrospectively to the late 19th-century French artist Henri de Toulouse-Lautrec (portrayed by Jose Ferrer in …

Pycnodysostosis, also known as “Toulouse-Lautrec syndrome,” is named from the Greek for dense, defective bones. It is a rare autosomal recessive disorder, with a prevalence of 1 in 1.7 …

Pycnodysostosis is a rare autosomal recessive skeletal disorder. It was first described in 1962 by Maroteaux and Lamy, and it is sometimes referred to as Toulouse-Lautrec Syndrome, named …

Pycnodysostosis or Maroteaux-Lamy syndrome is a genotypic bone disorder, with autosomal recessive inheritance, individualized by Lamy and Maroteaux in 1962. It is characterized by …

Pycnodysostosis (PYCD), also known as Toulouse-Lautrec syndrome, was first reported as a distinct condition by Maroteaux and Lamy in 1965. This rare autosomal recessive disorder is …

2023年11月5日 · Pyknodysostosis, (alternatively spelt pycnodysostosis) also known as osteopetrosis acro-osteolytica or Toulouse-Lautrec syndrome, is a rare autosomal recessive …

2018年5月24日 · Pycnodysostosis or Maroteaux–Lamy syndrome is a genotypic bone disorder, with autosomal recessive inheritance, individualized by Lamy and Maroteaux in 1962. It is …