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

Assistance Publique - Hôpitaux de Paris

Status: Completed

Conditions: Seckel Syndrome; Microcephalic Osteodysplastic Primordial Dwarfism Type II

Study type: Observational

Funder types: Other

Identifiers

NCT03139903

P081256

Details and patient eligibility

About

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).

Full 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

Enrollment: 30 patients

Sex: All

Ages: 2+ months old

Volunteers: Accepts Healthy Volunteers

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.