bien voila: (ce sont les mots en gras (quand ils sont dans le contexte) uniquement pour lesquels j'ai besoin d'une traduction... je donne le contexte pour faciliter la tâche!)
HGPS is inherited in an autosomal dominant manner. All probands with HGPS have the disorder as the result of a de novo mutation.
Although no instances of germline mosaicism have been reported, it remains a possibility.
Distal phalangeal osteolysis
Micrognathia
Coxa valga
"Sclerodermatous" skin over lower abdomen and proximal thighs, in which irregular bumps give the appearance of lipodystrophy
Although urinary hyaluronic acid was reported to be increased in most children with HGPS
uniparental isodisomy
A single case report of a male heterozygous for the mutation R133L with lipoatrophy, disseminated white skin papules, hypertrophic cardiomyopathy, hepatic steatosis, and insulin resistance
Early findings such as midfacial cyanosis, "sculpted nose," and "sclerema" (or "sclerodermatous skin") may suggest HGPS at or shortly after birth.
However, many changes associated with normal aging such as near-sightedness or far-sightedness, arcus senilis, osteoarthritis, senile personality changes, or Alzheimer disease have not been documented.
Acrogeria
Gerodermia osteodysplastica
As with de novo mutations in achondroplasia, all informative HGPS mutations have been paternal in origin, though the number of families evaluated is small
Merci beaucoup!!Conjugated hemophilus influenza vaccine for children ages 18 months through five years is recommended.
le texte se trouve à cette adresse: http://www.geneclinics.org/profiles/hgps/
