The general objective of this research is to evaluate the characteristics of bone mineralisation in patients with Marfan syndrome or Ehlers-Danlos syndrome on a large case series. In particular we intend to obtain data regarding the characteristics of bone mineralisation, as well as their variation over time and the relationships existing with other clinical-anamnestic parameters, in patients with Marfan syndrome or Ehlers-Danlos syndrome by retrospectively analysing (data already collected for normal clinical practice and already available at the hospital) the case history of the Cardiovascular genetic center at IRCCS Policlinico San Donato and the related Computerized Bone Mineralometry (MOC) examinations performed at the Radiology Service of the same hospital between 1 September 2019 and 31 December 2022.
Study Type
OBSERVATIONAL
Enrollment
150
Objective 1
To retrospectively evaluate the percentage of subjects with fractures in subjects with Marfan syndrome and Ehlers Danlos syndrome who performed at least one Bone Mineral Densitometry in the period between 1 September 2019 and 31 January 2025.
Time frame: Between 1 September 2019 and 31 January 2025.
Objective 2
Identifying patients with osteoporosis with T-score values below -2.5 SD and z-score values ≤ -2 SD in the paediatric population.
Time frame: Between 1 September 2019 and 31 January 2025.
Objective 3
Identify patients with osteopenia with T scores between -1 and -2.5 SD
Time frame: Between 1 September 2019 and 31 January 2025.
Objective 4
Identify adult patients with TBS values * TBS values ≤ 1200 (degraded micro-architecture); * TBS values between 1349 - 1201 (partially degraded micro-architecture).
Time frame: Between 1 September 2019 and 31 January 2025.
Alessandro Pini Alessandro Giorgio Pini,MD, Medical degree
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