200
Participants
Start Date
June 1, 2023
Primary Completion Date
June 1, 2026
Study Completion Date
June 1, 2027
Evaluation of the prevalence of truly (authentified) idiopathic short stature after multidisciplinary clinico-radiological evaluation
"1. pre-inclusion consultation~2. inclusion consultation~ * personal history~ * height, weight, cranial perimeters, and spans of both parents~ * clinical examination of the child~ * photographs of the child~ * additional X-rays"
analysis in a multidisciplinary consultation meeting via a secure platform (ShareConfrère) for evaluation by multidisciplinary team
"multidisciplinary team (geneticist, orthopedist, radiologist, pediatric endocrinologist) which will assign each patient an orientation:~* either to the non idiopathic short stature group (syndromic diagnostic orientation or to a constitutional bone pathology)~* or to the authentified idiopathic short stature group"
Whole genome analysis for authentified idiopathic short stature
"For the first 30 patients included in the authentified idiopathic short stature group, a whole genome analysis in trio (child + parents) will be performed as part of the research.~For these 30 patients in the authentified idiopathic short stature group, the teleconsultation carried out for the submission of the multidisciplinary consultation meeting conclusions will make it possible to establish the family tree, to explain the interest and limits of the analysis, and to submit the consents dedicated to the genetic analysis."
University Hospital, Montpellier
OTHER