The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II

Study Overview
=================
Brief Summary
-----------------
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).

Detailed Description
-----------------
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

Official Title
-----------------
The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII).

Conditions
-----------------
Microcephalic Osteodysplastic Primordial Dwarfism Type II, Seckel Syndrome

Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: Patients aged from 2 months to 50 years must present all of the following criteria: Symmetrical intrauterine growth restriction (IUGR) < - 2 DS, Birth size <-2 DS and Cranial perimeter of birth <-2 DS Postnatal growth restriction (size <-4DS) Microcephaly <-4DS Clinical Diagnosis of Seckel Syndrome or Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) by a geneticist Having given free and informed consent Exclusion Criteria: Refutation of the diagnosis Parents' refusal to participate in genetic studies once the diagnosis of SCKL or MOPDII has been establish for the patient (major or minor) Allergy to gadolinium, contraindicating the realization of an Angio-MRI Absence of affiliation to a social security scheme or Universal Health Coverage.

Ages Eligible for Study
-----------------
Minimum Age: 2 Months

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
Accepts Healthy Volunteers

Study Plan
=================
How is the study designed?
-----------------
What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| to visualize any vascular abnormalities according the cerebral angiography-MRI |  | 10 months | 

Secondary Outcome Measures

| Outcome Measure | 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 | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
Microcephalic Osteodysplastic Primordial Dwarfism Type II, Seckel Syndrome