Microcephalic Osteodysplastic Primordial Dwarfism Type II Clinical Trial
Official title:
The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII).
The purpose of this study si to define morphological and epidemiological parameters and identify new symptoms in French patients with Seckel syndrome (SCKL) or microcephalic osteodysplastic primordial dwarfism type II (MOPDII).
Multicentre study, aiming to determine morphological and epidemiological parameters and
identify new symptoms in French patients with SCKL or MOPDII.
At pre-inclusion visit: Realization of the photographs of: the face, entire body and the
extremities (hands and feet) that will be serve for the collegiate decision of the inclusion
or not of patients.
Patients are seen at inclusion V1 , a second visit V2 at 6-10 months after V1 and an annual
follow-up visit.
At inclusion:
- Full Clinical Examination, specialized consultations (Otorhinolaryngology, stomatology,
orthopedics, ophthalmology)
- Results of x-ray examinations and biological tests
- Assessment of the patients competencies and initiation of appropriate care ( orthophony
and psychomotricity...)
- Assessment of intelligence and cognitive ability according the WISC-IV scale
- Blood testing for diagnosis and research.
Visit 2:
- Full Clinical Examination
- Cerebral angiography-MRI for all patients
- Programming a neurosurgery / neurovascular consultation based on MRI results
- Immuno-hematology and hepato-gastroenterology consultation if anomaly during the visit
V1
Annual follow-up visit:
- Assessment of the complications of the disease and its clinical care
- Full clinical examination
- Skeletal x-ray and systematic orthopedic consultation
- Blood Check
- Prescription of tests if necessary depending to the complications identified of the
disease
- Reevaluation of the care according to the detected symptoms
;