Constitutional bone diseases

French national reference center for constitutional bone diseases (MOC)

Logo centre de référence des maladies osseuses MOC

Constitutional bone diseases (MOC) is linked to abnormalities in the formation and growth of the skeleton. They mainly lead to variable stature failure, possible pains and deformities. There are more than 460 constitutional bone diseases (International Classification: Mortier GR, Cohn DH, Cormier-Daire V et al, Am J Med Gen A, 2019, 179 (12): 2393-2419) some of which are more common such as achondroplasia, osteogenesis imperfecta or multiple exostoses disease.

The national rare diseases reference center (CRMR) for constitutional bone diseases (MOC) was labelled in 2004 as part of the first national rare diseases plan. It is based on multidisciplinary, medical, surgical and biological teams, historically largely involved in the diagnosis and care of these pathologies. Coordinated by professor Valérie Cormier-Daire, it was overhauled in 2017 when the CRMR was relabelled, with a new architecture. It brings together 3 activities, each with their own network: constitutional bone diseases (MOC), non-vascular Ehler-Danlos syndromes (SED NV) and fibrous dysplasia of the bones (DF).

This reference center is affiliated with the OSCAR (bone, calcium and cartilage) rare disease healthcare network and the BOND European reference network (ERN) for rare bone disorders.

Patient pathway
 

Plaquette consultation génétique Moc

Medical
team

Médecin responsable du centre de référence des maladies osseuses constitutionnelles (MOC)

Responsible physician
Pr Valérie Cormier-Daire
MD, PhD

Portrait du docteur Geneviève Baujat, médecin du centre de référence des maladie osseuses constitutionnelles

Dr Geneviève Baujat
MD

Contact us
 

Secretariat of Pr Valérie Cormier-Daire
Phone. +33 (0)1 42 19 27 13

Secretariat of Dr Geneviève Baujat
Phone. +33 (0)1 44 49 51 53
Fax : +33 (0)1 44 49 51 50

> Send an email

These numbers are also used to reach members of the CRMR during the day in case of emergency.

In case of emergency

The Necker site is a transverse unit without hospital beds. There is no emergency guard organization.

In the event of a medico-surgical emergency, we invite people to go to the Necker emergency and rapid diagnosis center (tel: +33 (0)1 44 49 42 90 / 91) or the closest medical emergency center to their place of residence.

For clinical research activity:

Investigating doctor:
Phone. +33 (0)7 85 98 09 46
ARC / TEC:
Phone. +33 (0)1 71 19 64 29 or 73
Fax +33 (0)1 44 49 51 50.

The MOC CRMR specializes in skeletal dysplasias.

It consists of 25 sites forming a network at the national level:

  • 1 coordinator site at Necker-Enfants malades hospital | Pr Valérie Cormier-Daire
  • 2 adult constituent sites:
    • Cochin hospital (AP-HP) | Pr Christian Roux
    • Lariboisière hospital (AP-HP) | Pr Martine Cohen-Solal
  • 22 competence centers

The specificity of the Necker-Enfants Malades hospital site is based on:

  • The wide range of medico-surgical and biological specialties and the technical platform of the hospital (orthopedics, neurosurgery, ENT, medical imaging, maxillofacial and stomatology surgery) allowing follow up and appropriate care.
  • A very large number of different pathologies: 236 pathologies seen over the past 12 years and more than 9,700 registered patients (BNDMR).
  • Strong diagnostic consultation and care activity: 1,489 (2017) and 1,592 (2018).
  • The hospital laboratory for molecular genetics and prenatal diagnosis (molecular genetics department, Pr Julie Steffann).
  • Close scientific cooperation in fundamental research on the molecular bases, physiopathology and therapeutic approaches of these pathologies thanks to the dedicated research team (Inserm UMR_S1163, Paris Descartes university-Sorbonne Paris Cité, institut Imagine) located in the Imagine institute and coordinated by Pr Valérie Cormier-Daire. This allows a symbiosis between clinical, therapeutic and research activity.
  • Significant clinical research activity since 2007 with, in 2018, 2 natural history studies, 6 international therapeutic trials and 1 post-marketing register.
  • A « transfer » consultation towards adulthood is organized with the two adult sites (Cochin and Lariboisière) and specific « transition » consultations at the Necker hospital with Dr Eugénie Koumakis for young people aged 15 to 18.

To this day, the main ones are:

En savoir +

The missions of the MOC reference center include the following main areas:

  • provide diagnostic expertise;
  • promote care actions and offer an adapted care path for patients and their families;
  • ensure and develop the teaching and dissemination of knowledge to the concerned health professionals ;
  • participate actively in fundamental research, clinical research and development of innovative therapies (in France and abroad);
  • promote information, communication and training for all the professionals concerned (medical, socio-educational and psychologists, health and administrative authorities) and families associations;
  • allow the link with the other CRMR, the animation and the coordination of the whole network of competence centers affiliated to the CRMR, with a very particular work in the coherence of the aforementioned missions and the missions of the OSCAR sector, in order to be in complementarity and optimization of missions;
  • promote collaborations at European level: European Reference Network on Bone Rare Diseases (ERN BOND) and International Skeletal Dysplasia Society (ISDS).
Image CRMR Moc, équipe à la une
  • Pr Valérie Cormier-Daire, head of clinical genetics and head of the reference center
  • Dr Geneviève Baujat
  • Stéphanie Philip, secretary to Prof. Cormier-Daire
  • Béatrice de Raucourt, secretary to Dr Baujat

Contact details for specialist consultations >>

The coordinating site of the reference center organizes a weekly multidisciplinary consultation meeting (RCP) within the site every Wednesday with the other sites of its national network.

To send them your request for an opinion, click here >> https://www.lestaff.com/oscar-moc

 

  1. Log in to your account or register
  2. Complete your patient’s form and submit your request
  3. You receive an email notification as soon as the notice is delivered

See the detailed tutorial (https://www.lestaff.com/tutoriel-avis-oscar)

There is a staff dedicated to requests for molecular studies in connection with the molecular genetics department every wednesday in the presence of doctor Dr Sophie Rondeau.

Other regular specific multidisciplinary consultation meetings are:

  • Monthly staff « Occipito-cervical hinge »
  • Monthly staff « MOC Radiology »
  • Quarterly staff « Fetal pathologies with skeletal disorders »

A RCP dedicated to the FMG2025 plan is also set up via the staff.

The national diagnostic and care protocols (PNDS) are good practice guidelines for rare diseases. The objective of a PNDS is to explain to the concerned professionals the optimal diagnostic and therapeutic care and the care pathway of a patient suffering from a given rare disease.

As provided for in the 2011-2014 second national rare disease plan , they are drawn up by the rare disease reference and competence centers using a method proposed by the Haute Autorité de Santé (HAS).

The PNDS include a “summary for the attending physician” section.

« Therapeutic patient education (…) aims to help patients (and their families) acquire or maintain the skills they need to best manage their lives with chronic disease » (WHO, 1998).

The Necker MOC site relies on the  « Molecular and physiopathological bases of osteochondrodysplasias » research team (Inserm UMR_S1163, Paris Descartes-Sorbonne Paris Cité university, Imagine Institute) led by Pr Valérie Cormier-Daire and dedicated to the study of the molecular mechanisms of constitutional bone diseases and the search for specific therapies.

Fundamental research

Since its creation in 1998, the research team has been working on various research projects. The main themes of the team are skeletal ciliopathies, acromelic dysplasias, multiple dislocations, osteogenesis imperfecta and bone fragility, and other pathologies of the extracellular matrix.

Other projects are also underway everywhere on different themes, including Cornelia de Lange syndrome, platyspondyl dwarfism and dyschondrosteosis.

The main research projects are funded by national public bodies (ANR, Inserm and European (EU FP7, H2020) and by the Rare Disease Foundation (FMR). Families associations also contribute to research on dedicated projects (the listing update is in progress).

>> Imagine Institute

Clinical research

The Necker MOC site has been carrying out significant clinical research activity since 2007 in the clinical genetics department of Pr Valérie Cormier-Daire. It initiates, participates and / or coordinates clinical research projects in partnership with academic institutions (PHRC, IARC) and with the pharmaceutical industries for innovative therapeutics and post-marketing registers.

The studies are coordinated by Dr Kim-Hanh Le Quan Sang (MCF, Paris-Descartes university) and URC / CIC of Necker (AP-HP).

Clinical studies with academic promotion

The MOC CRMR participates in clinical studies at European level:

  • Schmid-type metaphyseal chondrodysplasia (MCDS Therapy), Horizon 2020 project, (international collaboration).
  • Osteogenesis imperfecta (OI), European PEDSTART Network. The  MOC CRMR is the French coordinating center, C4C program (conect4children consortium).

The opening of the Necker site for these two pediatric clinical studies is scheduled for 2020.

Registers and databases

The Necker MOC site, in partnership with the Imagine Institute, develops cohorts of patients with very rare skeletal pathologies (general MOC database, OI databases, cranial cleido dysplasia (DCC), pycnodysostosis, acromelic dysplasias, skeletal ciliopathies, dwarfism platyspondylic, SATB2, transition).

It participates in national academic registers (RADICO-MPS on Morquio A syndrome, register of the French consortium on hypophosphatasia (HPP), Phenodent study on HPP) and international (IFOPA –International Fibrodysplasia Ossificans Progressiva Association).

University degree in constitutional bone diseases
Paris-Descartes university

  • Calendar: December to June
  • Pace: 3 x one-week modules in December, January and March
  • Location: Paris 15th
  • Program
    • Module 1: Introduction and diagnosis of chondrodysplasias
    • Module 2: Osteochondrodysplasias
    • Module 3: Care for MOCs and news conferences

2020

Extraocular muscle positions in anterior plagiocephaly: V-pattern strabismus explained using geometric mophometrics.
Romain Touzé, Yann Heuzé, Matthieu P Robert, Dominique Brémond-Gignac, Charles-Joris Roux, Syril James, Giovanna Paternoster, Eric Arnaud, Roman Hossein Khonsari
Br J Ophthalmol, 2020 Aug, PMID: 31694836 DOI: 10.1136/bjophthalmol-2019-314989

Cerebral oxygenation in children with sleep-disordered breathing.
Laurence Tabone, Sonia Khirani, Alessandro Amaddeo, Guillaume Emeriaud, Brigitte Fauroux
Paediatr Respir Rev, 2020 Apr, PMID: 31753753 DOI: 10.1016/j.prrv.2019.10.002

Spinal dysraphism as a new entity in V.A.C.TE.R.L syndrome, resulting in a novel acronym V.A.C.TE.R.L.S.
Aymeric Amelot, Célia Cretolle, Timothée de Saint Denis, Sabine Sarnacki, Martin Catala, Michel Zerah
Eur J Pediatr, 2020 Jul, PMID: 32055959 DOI: 10.1007/s00431-020-03609-4

Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.
Johanne Dubail, Perrine Brunelle, Geneviève Baujat, Céline Huber, Mathilde Doyard, Caroline Michot, Pascale Chavassieux, Abdeslam Khairouni, Vicken Topouchian, Sophie Monnot, Eugénie Koumakis, Valérie Cormier-Daire
J Bone Miner Res, 2020 Aug, PMID: 32181939 DOI: 10.1002/jbmr.4011

Outcomes of growing rods in a series of early-onset scoliosis patients with neurofibromatosis type 1.
Charlie Bouthors, Ruben Dukan, Christophe Glorion, Lotfi Miladi
J Neurosurg Spine, 2020 Apr 24, PMID: 32330884 DOI: 10.3171/2020.2.SPINE191308

Follow-Up and Monitoring of Children Needing Long Term Home Ventilation.
Sonia Khirani, Alessandro Amaddeo, Lucie Griffon, Agathe Lanzeray, Theo Teng, Brigitte Fauroux
Front Pediatr, 2020 Jun 22, PMID: 32656168 PMCID: PMC7322995 DOI: 10.3389/fped.2020.00330

Early mandibular morphological differences in patients with FGFR2 and FGFR3-related syndromic craniosynostoses: A 3D comparative study.
A Morice, R Cornette, A Giudice, C Collet, G Paternoster, É Arnaud, E Galliani, A Picard, L Legeai-Mallet, R H Khonsari
Bone, 2020 Dec, PMID: 32822871 DOI: 10.1016/j.bone.2020.115600

Non-invasive Ventilation and CPAP Failure in Children and Indications for Invasive Ventilation.
Alessandro Amaddeo, Sonia Khirani, Lucie Griffon, Theo Teng, Agathe Lanzeray, Brigitte Fauroux
Front Pediatr, 2020 Oct 26, PMID: 33194886 PMCID: PMC7649204 DOI: 10.3389/fped.2020.544921

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.
Yin-Huai Chen, Giedre Grigelioniene, Phillip T Newton, Jacob Gullander, Maria Elfving, Anna Hammarsjö, Dominyka Batkovskyte, Hessa S Alsaif, Wesam I Y Kurdi, Firdous Abdulwahab, Veerabahu Shanmugasundaram, Luke Devey, Séverine Bacrot, Jana Brodszki, Celine Huber, Ben Hamel, David Gisselsson, Nikos Papadogiannakis, Katarina Jedrycha, Barbara Gürtl-Lackner, Andrei S Chagin, Gen Nishimura, Dominik Aschenbrenner, Fowzan S Alkuraya, Arian Laurence, Valérie Cormier-Daire, Holm H Uhlig
J Exp Med, 2020 Mar 2, PMID: 31914175 PMCID: PMC7062520 DOI: 10.1084/jem.20191306

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.
Nadja Ehmke, Kristina Cusmano-Ozog, Rainer Koenig, Manuel Holtgrewe, Banu Nur, Ercan Mihci, Holly Babcock, Claudia Gonzaga-Jauregui, John D Overton, Jing Xiao, Ariel F Martinez, Maximilian Muenke, Alexander Balzer, Judith Jochim, Naji El Choubassi, Björn Fischer-Zirnsak, Céline Huber, Uwe Kornak, Sarah H Elsea, Valérie Cormier-Daire, Carlos R Ferreira
Bone, 2020 Apr, PMID: 31923704 DOI: 10.1016/j.bone.2019.115219

2019

2018

2016

2014

  • XYLT1 mutations in Desbuquois dysplasia type 2.
    Bui C, Huber C, Tuysuz B, Alanay Y, Bole-Feysot C, Leroy JG, Mortier G, Nitschke P, Munnich A, Cormier-Daire V.
    Am J Hum Genet, 2014 Mar 6, PMID: 24581741 PMCID: PMC3951945 DOI: 10.1016/j.ajhg.2014.01.020
  • Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
    Michot C, Le Goff C, Mahaut C, Afenjar A, Brooks AS, Campeau PM, Destree A, Di Rocco M, Donnai D, Hennekam R, Heron D, Jacquemont S, Kannu P, Lin AE, Manouvrier-Hanu S, Mansour S, Marlin S, McGowan R, Murphy H, Raas-Rothschild A, Rio M, Simon M, Stolte-Dijkstra I, Stone JR, Sznajer Y, Tolmie J, Touraine R, van den Ende J, Van der Aa N, van Essen T, Verloes A, Munnich A, Cormier-Daire V.
    Eur J Hum Genet, 2014 Nov, PMID: 24424121 PMCID: PMC4200423 DOI: 10.1038/ejhg.2013.288

2013

  • Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families
    Baujat G, Huber C, El Hokayem J, Caumes R, Do Ngoc Thanh C, David A, Delezoide AL, Dieux-Coeslier A, Estournet B, Francannet C, Kayirangwa H, Lacaille F, Le Bourgeois M, Martinovic J, Salomon R, Sigaudy S, Malan V, Munnich A, Le Merrer M, Le Quan Sang KH, Cormier-Daire V.
    J Med Genet, 2013 Feb, PMID: 23339108 DOI: 10.1136/jmedgenet-2012-101282
  • Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.
    Huber C, Faqeih EA, Bartholdi D, Bole-Feysot C, Borochowitz Z, Cavalcanti DP,  Frigo A, Nitschke P, Roume J, Santos HG, Shalev SA, Superti-Furga A, Delezoide AL, Le Merrer M, Munnich A, Cormier-Daire V.
    Am J Hum Genet, 2013 Jan 10, PMID: 23273569 PMCID: PMC3542463 DOI: 10.1016/j.ajhg.2012.11.015

2012

Coordinating center

Necker-Enfants malades university hospital (AP-HP)
149 rue de Sèvres, 75015 Paris
Pr Valérie Cormier-Daire – coordinator
Dr Geneviève Baujat – PH
Clinical Genetics Department
Phone. +33 (0)1 42 19 27 13/ (0)1 44 49 51 53

2 constituent sites

Cochin hospital (AP-HP)
27, rue du Faubourg Saint-Jacques, 75014 Paris
Professor Christian Roux
Rheumatology Department
Phone. +33 (0)1 58 41 25 62

Lariboisière hospital (AP-HP)
2, rue Ambroise Paré, 75010 Paris
Pr Martine Cohen-Solal
Rheumatology Department
Phone. +33 (0)1 48 74 02 50

22 competence centers

Amiens-Picardie university hospital – South Site
1, Rond Point du Professeur Christian Cabrol, 80054 Amiens Cedex
Dr Gilles Morin
Clinical genetics and oncogenetics department
Phone. +33 (0)3 22 08 75 80

Bordeaux university hospital – GH Pellegrin
Place Amélie Raba-Léon, 33076 Bordeaux Cedex
Dr Julien Van Gils
Department of medical genetics
Phone. +33 (0)5 57 82 03 63

Caen university hospital: Côte de Nacre hospital
avenue de la Côte de Nacre, 14033 Caen Cedex 9
Dr Alexandra Desdoits
Pediatric orthopedic surgery department
Phone. +33 (0)2 31 06 44 86

Clermont-Ferrand university hospital: Estaing hospital
1, place Lucie Aubrac, 63003 Clermont-Ferrand Cedex 1
Dr Christine Francannet
Department of medical genetics
Phone. +33 (0)4 73 75 06 53

Dijon Burgundy CHU: François Mitterrand hospital
2, bd Maréchal de Lattre de Tassigny, 21000 Dijon
Dr Sébastien Moutton
Genetics center, Children’s hospital
Phone. +33 (0)3 80 29 53 13

Grenoble university hospital: North site, couple-child hospital
Quai Yermolof – Cs 10217 – 38043 GRENOBLE CEDEX 9
Professor Julien Thevenon
Clinical genetics unit
Phone. +33 (0)4 76 76 72 85

Reunion university hospital: Félix Guyon hospital, children’s pole
Allée des Topazes CS 11 021, 97405 Saint-Denis Cedex
Dr Jean-Luc Alessandri
Phone. +33 (0)2 62 90 58 31

Lille CHRU: Jeanne de Flandre hospital
Avenue Eugène Avinée, 59037 Lille Cedex
Dr Anne Dieux-Coeslier
Genetics clinic « Guy Fontaine »
Phone. +33 (0)3 20 44 49 11

Hospices civils de Lyon: GH Est, woman mother child hospital
59, Boulevard Pinel, 69677 Bron Cedex
Dr Massimiliano Rossi
Genetics department
Phone. +33 (0)4 27 85 55 73

Marseille university hospital: Timone hospital
264, rue Saint-Pierre, 13385 Marseille Cedex 5
Dr Sabine Sigaudy
Department of medical genetics
Phone. +33 (0)4 94 38 67 49

Montpellier university hospital: Arnaud de Villeneuve hospital
371, avenue du Doyen Gaston Giraud, 34295 Montpellier Cedex 5
Dr Marjolaine Willems
Medical genetics, rare diseases and personalized medicine
Phone. +33 (0)4 67 33 65 64

Nancy CHU: Brabois children’s hospital
Rue du Morvan, 54511 Vandoeuvre-Lès-Nancy cedex
Pr Pierre Journeau
Pediatric orthopedic surgery Department
Phone. +33 (0)3 83 15 47 07

Nantes university hospital: Hôtel-Dieu hospital
1, place Alexis Ricordeau, 44093 Nantes Cedex 1
Dr Bertrand Isidor
Department of medical genetics – Clinical genetics unit
Phone. +33 (0)2 40 08 32 45

Nice university hospital: Arcet hospital
151, Route de Saint-Antoine, 06200 Nice
Dr Damien Haye
Phone. +33 (0)4 92 03 62 43

CHU Paris Est – Trousseau children’s hospital (AP-HP)
26, avenue du Docteur Arnold Netter, 75012 Paris Cedex 12
Dr Véronique Forin
Pediatric physical medicine and functional rehabilitation
Phone. +33 (0)1 44 73 68 51

Poitiers CHU: Milétrie hospital
2, Rue de la Milétrie – CS 90577, 86000 Poitiers
Prof. Françoise Debiais
Rheumatology department
Phone. +33 (0)5 49 44 49 48

Rennes university hospital: South hospital
16, Boulevard de Bulgaria, 35203 Rennes Cedex 2
Dr Mélanie Fradin
Clinical genetics department
Phone. +33 (0)2 99 26 67 44

Rouen university hospital: Charles Nicolle hospital
1, Rue de Germont, 76031 Rouen Cedex
Dr Alice Goldenberg
Department of genetics – Clinical genetics unit
Phone. +33 (0)2 32 88 87 47

Saint-Etienne CHU: Bellevue hospital
25, boulevard Pasteur, 42055 Saint-Etienne Cedex 2
Dr Isabelle Courtois
Adult physical and rehabilitation medicine – spine unit
Phone. +33 (0)4 77 12 76 76

Strasbourg university hospital: Hautepierre hospital
1, Avenue Molière, 67200 Strasbourg
Dr Elise Schaeffer
Department of medical genetics
Phone. +33 (0)3 88 12 81 20

Toulouse university hospital: Children’s hospital
330, avenue de Grande Bretagne – TSA 70034, 31059 TOULOUSE CEDEX 9
Dr Thomas Edouard
Pediatrics – endocrinology, genetics and medical gynecology
Phone. +33 (0)5 34 55 85 46/56

Tours CHRU: Clocheville hospital
49, boulevard Béranger, 37044 Tours Cedex 9
Pr Thierry Odent
Department of orthopedic and trauma surgery
Phone. +33 (0)2 47 47 38 22

2021

Dwarfism: definition, symptoms, treatment and research
Doctissimo | 19.11.2021
1.40 m: this is the height below which an adult is considered a short person. In France, between 8,000 and 10,000 French people suffer from « bone dwarfism ». A growth disorder that is often accompanied by complications, some of which are sometimes severe. But beyond these medical difficulties, individuals with dwarfism mostly suffer from the gaze of the Other. Update with Pr Valérie Cormier-Daire, clinical geneticist at Necker-Enfants malades hospital (AP-HP) and coordinating physician of the Reference Center for Constitutional Bone Diseases (CRMR MOC), and Violette Viannay, administrator of the Association des Personnes de Petite Taille (APPT).
> Read more

Disease: the hope of a new treatment against dwarfism
France 3 | 05.03.2021
A new hope for people suffering from dwarfism. This is the case of Amandine, 9 years old, the first patient to benefit from a promising treatment against this genetic disease.
> Read more

Suffering from dwarfism, a 9 year old child will test a new treatment in France
Ouest France | 04.09.2021
A 9-year-old child suffering from achondroplasia will be the first person in France to use a new treatment for dwarfism.
> Read more

Affected by dwarfism, Amandine, 9 years old, will be able to grow up a little thanks to a new treatment
Au Féminin | 04.09.2021
Suffering from achondroplasia, a 9-year-old girl was able to benefit from a treatment against dwarfism, within the framework of a clinical trial led by the Necker Hospital and the Imagine Genetic Diseases Institute.
> Read more

Dwarfism: Amandine, 9 years old, tests a new treatment
Sud Ouest | 04.09.2021
Young Amandine, 9 years old, is the first child to benefit from a treatment to fight against achondroplasia, the most common form of dwarfism.
> Read more

Dwarfism: a little girl is going to test a new treatment to « grow a few centimeters ».
Midi Libre | 04.09.2021
A 9-year-old girl suffering from achondroplasia, the most common form of dwarfism, is testing for the first time in France a protocol that could allow her to grow up. The treatment is composed of infigranitig, a molecule that the child is only the thirteenth in the world to test.
> Read more

A new treatment for dwarfism tested on a child in France
Le Point | 04.09.2021
Suffering from achondroplasia, Amandine, 9 years old, is the first French child and the thirteenth in the world to benefit from this treatment, says « Le Parisien ».
> Read more

Achondroplasia: 25 years of French research to give hope to grow up
Le Parisien | 04.09.2021 | Dr Geneviève Baujat and Laurence Legeai-Mallet
At 9 years old, Amandine is the first child in France to receive a new drug against achondroplasia, the most common form of dwarfism. The discovery of the gene responsible for this disease and the molecule tested is the result of French research at the Necker Parisian hospital .
> Read more

The hope of Amandine, 9 years old, first child in France to test a new treatment against dwarfism
Le Parisien | 04.09.2021 | Laurence Legeai-Mallet
This little girl, who suffers from achondroplasia, the most common form of dwarfism, is receiving a drug designed to « break » the action of her defective gene as part of a clinical trial conducted by the Necker hospital and the Imagine Institute. She hopes to grow a few more centimeters.
> Read more

Iffendic. She mobilizes with her association
Ouest France | 02.22.2021 | Dr Geneviève Baujat
Anne-Claire Leduc wants to take advantage of International Rare Disease Day, Sunday February 28, 2021, to bring families together on social networks, and better inform them.
> Read more

2020

Disability: experimental drug shows encouraging results in treating people with short stature
Sciences et Avenir | 12.04.2020
While a new treatment promises to lessen the impact of achondroplasia in future generations, changing the way we look at dwarfism is essential to improving the quality of life for the current generation.
> Read more

Drug makes children with dwarfism grow taller
Le Figaro | 09.21.2020
Vosoritide generated a significant growth jump in young patients treated for one year.
> Read more

People of short stature
RFI | 09.15.2020 | Pr Valérie Cormier-Daire
What are the different types of dwarfism? Are prenatal diagnoses reliable? What complications can arise? What types of care currently exist?
> Listen to the podcast

2019

New hope in the fight against dwarfism
L’Express | 06.04.2019
The achondroplasia gene was discovered in 1994. Twenty-five years later, treatments finally seem to be within reach. Visit to the Imagine Institute, in Paris.
> Read more

Focus on fibrodysplasia ossificans progressiva (FOP)

What is FOP?

What is fibrodysplasia ossificans progressiva? What are the suggestive signs of the disease? What are the main differential diagnoses to be ruled out? How can the diagnosis be confirmed? What are the consequences of diagnostic error?
Pr David Genevieve, clinical geneticist at the department of medical genetics, rare diseases and personalised medicine at the university hospital of Montpellier, university professor at the faculty of medicine of Montpellier and coordinator of the reference center for developmental Anomalies and malformative syndromes for the South-East Occitania region, answers questions.
> Listen to the podcast

Recognising FOP

What are the principles of radiological diagnosis of fibrodysplasia ossificans progressiva? What are the main differential diagnoses to be ruled out? What radiological follow-up should be proposed once the diagnosis has been established? What is the role of the radiologist in the management of patients in expert centers?
Dr Valérie Merzoug, radiologist attached to the radiology department B of the Cochin Hospital in Paris and to the paediatric radiology department of the Bicêtre Hospital in Kremlin-Bicêtre, answers the questions.
> Listen to the podcast

Caring for adults with FOP

What are the main clinical pictures encountered in adult patients with fibrodysplasia ossificans progressiva? What are the principles of care and its specificities for adult patients? Why refer these patients to an expert center? What are the advances to come for this rare disease?
Dr. Thomas Funck-Brentano, rheumatologist in the rheumatology department of the Lariboisière hospital in Paris, one of the constituent centers of the reference center for constitutional bone diseases, answers questions.
> Listen to the podcast

Caring for children with FOP

What are the principles of care for children with fibrodysplasia ossificans progressiva? Are there atypical forms of the disease? What is the importance of early diagnosis and how to facilitate it? What are the advantages of being taken care of by a specialized care network? Where is the research on this rare disease?
Dr Geneviève Baujat, pediatrician, clinical geneticist and FOP referent in the medical genetics department at the Necker-Enfants Malades hospital in Paris, coordinating site of the reference center for constitutional bone diseases, answers questions.
> Listen to the podcast

Living with FOP

When and how do the first symptoms of  fibrodysplasia ossificans progressiva occur? What is the course of the disease? Why join a patient association? What are the objectives of the FOP France association?
Mr Fourmentin, father of a young patient with progressive fibrodysplasia ossificans and member of the FOP France association, answers questions.
> Listen to the podcast

Focus on hypophosphatasia

What is hypophosphatasia?

What is hypophosphatasia? What are the warning signs that should evoke this diagnosis, especially in children? How important is early diagnosis? What are the main differential diagnoses to be ruled out and the examinations to be performed to confirm the diagnosis?
Professor Agnès Linglart, pediatrician, university professor at the Paris-Saclay faculty of medicine, hospital practitioner, head of the pediatric endocrinology and diabetes department at Bicêtre hospital in Kremlin-Bicêtre and coordinator of the national reference center for rare diseases of calcium and phosphate metabolism from the OSCAR network, answers the questions.
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Recognising hypophosphatasia

What are the different dental symptoms that patients with hypophosphatasia can present, what is the role of the dental surgeon? Is dental involvement systematic in hypophosphatasia? What tests should be carried out to confirm the diagnosis? What are the recommendations for the management of patients with this rare disease?
Dr Martin Biosse Duplan, dental surgeon, hospital practitioner in the oral medicine department of the Bretonneau hospital in Paris, reference center for rare diseases of calcium and phosphate metabolism in the OSCAR network, answers the questions .
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Diagnosing hypophosphatasia in adults

How does hypophosphatasia manifest in adult patients? How to differentiate hypophosphatasia from classic osteoporosis? What to do with an undiagnosed adult patient with low alkaline phosphatase? What are the treatment modalities for adult patients with this rare disease? How important are expert centers for the care of these patients?
Professor Christian Roux, rheumatologist, university professor, head of the rheumatology department at Cochin Hospital in Paris and head of the reference center for constitutional bone diseases in adults, answers questions.
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Caring for hypophosphatasia

What are the treatment modalities for patients with hypophosphatasia? How is care organized for this pathology in France? What are the genetic procedures to be carried out? What are the prospects for research in this rare disease?
Dr Geneviève Baujat, pediatrician, clinical geneticist, hospital practitioner in the medical genetics department of the Necker-Enfants malades hospital in Paris and member of the HPP France consortium, answers questions
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Living with hypophosphatasia

How do the first symptoms of the disease arise? How to confirm the diagnosis? What care for young patients with hypophosphatasia? What genetic counseling for family members? What are the objectives of the hypophosphatasia Europe patient association?
Mrs. Rallu-Planchais, mother of a young patient with hypophosphatasia and president of the hypophosphatasia Europe patient association, answers questions.
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Focus on osteogenesis imperfecta

What is osteogenesis imperfecta?

What is osteogenesis imperfecta or brittle bone disease? What is the mechanism of occurrence of this rare disease? What are the main suggestive symptoms? How to diagnose patients with osteogenesis imperfecta? What are the differential diagnoses to rule out?
Pr Valérie Cormier-Daire, clinical geneticist, university professor at Paris-Descartes University and hospital practitioner, head of the clinical genetics department at the Necker-Enfants malades hospital in Paris, coordinator of the reference center for constitutional bone diseases from the OSCAR network and an Inserm research group at the Imagine Institute, answers the questions.
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Caring for osteogenesis imperfecta in children

What are the specificities of Osteogenesis Imperfecta in children? What are the challenges of treating this disease in children? What is the importance of care within expert centers and coordinated follow-up by the various specialists? How to improve the quality of life of children with Osteogenesis Imperfecta?
Dr. Zagorka Pejin, orthopedic surgeon involved in the care of children with Osteogenesis Imperfecta and hospital practitioner in the pediatric orthopedic surgery and traumatology department of the Necker-Enfants malades hospital in Paris, answers questions.
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Living with osteogenesis imperfecta

How do the first symptoms of the disease arise? How is the diagnosis made? How is the management of Osteogenesis Imperfecta evolving? What is the importance of maintaining a professional activity? Why join a patient association? What are the objectives of the Osteogenesis Imperfecta Association?
Mrs Alliot, patient with Osteogenesis Imperfecta and president of the AOI – Association de l’Ostéogenesis Imparfaite patient association, answers questions.
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Caring for osteogenesis Iimperfecta in adults

What are the treatment challenges for adult patients with Osteogenesis Imperfecta? What is the benefit of regular rheumatological follow-up in adulthood? What are the main symptoms to watch out for? What is the importance of coordinated follow-up between the different specialists involved in care? How is the child-adult transition a key moment? What are the current avenues of research in Osteogenesis Imperfecta?
Dr Eugénie Koumakis, rheumatologist, hospital practitioner in the rheumatology department of the Cochin hospital in Paris and member of the OSCAR network, the healthcare network dedicated to rare diseases of bone, calcium and cartilage, answers questions.
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Contact information

Necker-Enfants malades university hospital
> Clinical genetics department

149 rue de Sèvres
75743 PARIS Cedex 15

> Pediatric welcome booklet

In Necker, the reference center for constitutional bone diseases (MOC) in brief …

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patients followed at least once a year*
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medical consultations*
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day hospitalizations*
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fully hospitalized patients*
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current research projects*
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university courses*
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publications*

* data valid for 2020