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A picnodisostose ou síndrome de Toulouse-Lautrec é uma condição genética muito rara que se estima que afete cerca de 1 em 1,7 milhões de pessoas em todo o mundo. Foi pela primeira vez descrita em 1962 e apenas 200 casos estão descritos na literatura científica até agora.
- Hipofosfatásia
São conhecidas mais de 400 mutações diferentes no gene ALPL...
- Displasia Diastrófica
A displasia diastrófica é uma das várias displasias ósseas...
- Displasia Fibrosa
Embora raro, ocorre em formas graves de displasia fibrosa...
- XLH
A Hipofosfatémia Ligada ao Cromossoma X — também conhecida...
- Displasia Epifisária Múltipla
A Displasia Epifisária Múltipla (DEM) corresponde a um grupo...
- Displasia Campomélica
Têm sido descritos poucos casos da síndrome variante,...
- Casa
Adaptações em casa. As características físicas podem ter um...
- FOP/Osteocondromas Múltiplos
Sobre o Palovarotene 1. O Palovarotene é um agonista RARγ...
- Hipofosfatásia
- Clinical Presentation
- Pathology
- Radiographic Features
- History and Etymology
- Differential Diagnosis
Patients present in early childhood with: 1. short stature, particularly limbs 2. delayed closure of cranial sutures 3. frontaland occipital bossing 4. short broad hands and hypoplasia of nails 5. multiple long bone fractures following minimal trauma
Pyknodysostosis is a lysosomal disorder due to genetic deficiency in cathepsin K which has been mapped to chromosome 1q21. Cathepsin K is essential for normal osteoclast function.
Osteosclerosiswith narrowed medullary cavities is the main generalized imaging finding. Long bone fractures are common. 1. short, stubby fingers 2. partial agenesis/aplasia of terminal phalanges, simulating acro-osteolysis 3. delayed bone age 1. marked delay in sutural closure 2. frontoparietal bossing 3. calvarial thickening 4. Wormian bones (lamb...
Derived from the Ancient Greek terms "pucnos" (dense), "dys" (defective) and "ostosis" (bone condition). ακρον (acron) in osteopetrosis acro-osteolytica is Ancient Greek for "at the extremity" and refers to resorption at the distal phalanges as observed in this condition. The condition is also known as Toulouse-Lautrec syndrome, named after the fam...
General imaging differential considerations include: 1. osteopetrosis 1.1. "bone-in-bone" appearance 1.2. no delayed closure of cranial sutures 1.3. no phalangeal or clavicle hypoplasia 2. other sclerosing bone dysplasias
Named after the famous 19th century French artist Henri de Toulouse-Lautrec, who is believed to have had the disorder, Toulouse-Lautrec syndrome is a rare genetic disease that is estimated...
Em 1965, estes autores concluíram ter sido esta a misteriosa doença que vitimou o famoso pintor francês Henri de Toulouse-Lautrec (1864-1901) (1). Desde então, mais de 150 casos foram descritos em diferentes grupos étnicos.
- Rosana Quezado, Renan M. Montenegro Jr., Fabiana F. A. Araripe, Rafaela Vieira Corrêa
- 2003
5 de nov. de 2020 · Pycnodysostosis is also sometimes referred to as "Toulouse-Lautrec syndrome," after the French artist Henri de Toulouse-Lautrec (1864-1901), who was retrospectively thought to have this condition based on several phenotypic features of the disorder including short stature, parental consanguinity, facial dysmorphism, frequent ...
- Shannon LeBlanc, Ravi Savarirayan
- 2023/04/06
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 diffuse condensation of the skeleton with thickening of the cortex and narrowing of the medullary cavity.
9 de jan. de 2021 · More recently, this constellation of signs has been related to pycnodysostosis, sometimes known as Toulouse-Lautrec Syndrome. Pycnodysostosis is related to cathepsin K osteoclasts deficiency, leading to osteosclerosis, short stature, and dysmorphic face features.
