A5066489360- Craniofacial Disorders and Treatments
- Genetics and Neurodevelopmental Disorders
- Cleft Lip and Palate Research
- Head and Neck Anomalies
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Vitamin C and Antioxidants Research
- Pathogenesis and Treatment of Hiccups
- Alcoholism and Thiamine Deficiency
- Hedgehog Signaling Pathway Studies
- Genomics and Rare Diseases
- Tracheal and airway disorders
- Tumors and Oncological Cases
- Pharmacological Effects and Toxicity Studies
- RNA modifications and cancer
- Connective tissue disorders research
- Chromatin Remodeling and Cancer
- Therapeutic Uses of Natural Elements
- Pharmaceutical studies and practices
- Fetal and Pediatric Neurological Disorders
- Head and Neck Surgical Oncology
Institut des Maladies Génétiques Imagine
2018-2023
Université Paris Cité
2018-2023
Inserm
2018-2022
Hôpital Necker-Enfants Malades
2019-2021
Assistance Publique – Hôpitaux de Paris
2018-2021
Human Genetic of Infectious Diseases
2020
Délégation Paris 5
2018-2019
Sorbonne Paris Cité
2018-2019
Institut Necker Enfants Malades
2018
To provide new insights into the FOXG1-related clinical and imaging phenotypes refine phenotype-genotype correlation in FOXG1 syndrome.We analyzed of a cohort 45 patients with pathogenic or likely variant performed correlations.A total 37 different heterozygous mutations were identified, which 18 are novel. We described broad spectrum neurodevelopmental phenotypes, characterized by severe postnatal microcephaly developmental delay accompanied hyperkinetic movement disorder, stereotypes sleep...
MN1 encodes a transcriptional co-regulator without homology to other proteins, previously implicated in acute myeloid leukaemia and development of the palate. Large deletions encompassing have been reported individuals with variable neurodevelopmental anomalies non-specific facial features. We identified cluster de novo truncating mutations cohort 23 strikingly similar dysmorphic features, especially midface hypoplasia, intellectual disability severe expressive language delay. Imaging...
We report 3 cases of scurvy in children that occurred during a short period (2018) general pediatrics unit tertiary hospital for Paris. All were around years age and admitted skeletal pain altered state, which mimicked infectious or malignant diseases. Their selective diet was not the prominent issue. The diagnosis delayed, after too many unnecessary examinations medications. Bone imaging findings (X-ray MRI) posteriori considered typical, but lesions easily identified as because is...
Objectives: Cyproheptadine is a first-generation H1-antihistamine drug first that was distributed in the 1960s. While its orexigenic effect observed early, cyproheptadine not yet authorized for this indication all countries today. There an increasing medical interest and demand of cyproheptadine, especially children with poor appetite. As might be evaluated future clinical trials, we wanted to assess safety profile. Methods: Using French national pharmacovigilance database, retrospectively...
Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect at the junction between lobe helix, known as "Question Mark Ear" (QME). Several additional features, originating from first second branchial arches other tissues, have also been reported. ACS genetically heterogeneous with autosomal dominant recessive modes of inheritance. The mutations identified to date are presumed dysregulate endothelin 1 signaling pathway. Here...
Abstract Background Pierre Robin sequence (PRS) is a heterogeneous condition involving retro(micro)gnathia, glossoptosis and upper airway obstruction, very often with posterior cleft palate. Patients PRS, either isolated or associated Stickler syndrome have good intellectual prognosis. Nevertheless, the quality of life in adolescence phonatory morphological outcomes are rarely analysed. We assessed 72 cognitively unimpaired adolescents studied their oral (COHIP-SF19), vocal (VHI-9i) generic...
We aimed to investigate the developmental outcome of children with Robin sequence (RS) for whom continuous positive airway pressure was main strategy release upper obstruction.We included isolated RS or associated Stickler syndrome who were aged 15 months 6 years. used French version Child Development Inventory and calculated quotient (DQ) eight different domains global DQ (DQ-global). searched determinants risk delay.Of 87 children, 71%, evolution within norm (DQ-global ≥86 ≥-1 SD), 29% at...
We report 3 cases of scurvy in children that occurred during a short periodof time (2018) general pediatrics unit tertiary hospital for Paris.All the were around years age and admitted skeletal pain altered state, which mimicked infectious or malignant diseases.Their selective diet was not prominent issue.The diagnosis delayed, after too many unnecessary examinations medications.Bone imaging (X-ray MRI) posteriori considered typical, but lesions easily identified as because is well known by...
Abstract We assessed the phonatory and morphological outcome of 72 cognitively unimpaired adolescents with Pierre Robin Sequence (PRS), studied their generic (Kidscreen-52), oral (COHIP-SF19) vocal (VHI-9i) qualities life (QoL), sought to identify determinants these outcomes. Two-thirds our retained low or moderate phonation difficulties but risk factors for them were not identified. For 14%, esthetic results considered disharmonious no link neonatal retrognathia severity. Only two-stage...