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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:
Visit 2:
Annual follow-up visit:
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| Measure | Description | Time Frame |
|---|---|---|
| to visualize any vascular abnormalities according the cerebral angiography-MRI | 10 months |
| Measure | Description | Time Frame |
|---|---|---|
| Assessment of intelligence and cognitive ability according the Wechsler Intelligence Scale for Children (WISC-IV) | 2 days | |
| Measurement of visual acuity | 2 days |
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Inclusion Criteria:
Patients aged from 2 months to 50 years must present all of the following criteria:
Exclusion Criteria:
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Patients with Primordial Dwarfisms have been followed by network geneticists for which there is no systematic and homogeneous collection of biological, radiological and clinical data
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| Name | Affiliation | Role |
|---|---|---|
| CORMIER-DAIRE Valérie, PhD | Medical Genetics Department and INSERM U781, Necker-Enfants Malades Hospital, 75743 Paris, France | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Medical Genetics Department and INSERM U781, Necker-Enfants Malades Hospital | Paris | 75743 | France |
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| ID | Term |
|---|---|
| C565898 | Microcephalic Osteodysplastic Primordial Dwarfism, Type II |
| C537533 | Seckel syndrome 1 |
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