The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and… (NCT03139903) | Clinical Trial Compass
CompletedNot Applicable
The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II
France30 participantsStarted 2010-07-28
Plain-language 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).
Who can participate
Age range2 Months
SexALL
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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.
What they're measuring
1
to visualize any vascular abnormalities according the cerebral angiography-MRI