– Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.
Pauline Marzin, Briac Thierry, Andrea Dancasius, Anne Cavau, Caroline Michot, Sophie Rondeau, Geneviève Baujat, Gilles Phan 5, Maryse Bonnière et al.
Genet Med, 2021 Feb, PMID: 33082559 DOI: 10.1038/s41436-020-00994-x

– Can Chiari Osteotomy Favorably Influence Long-term Hip Degradation in Multiple Epiphyseal Dysplasia and Pseudoachondroplasia?
Aurélie Andrzejewski, Zagorka Péjin, Georges Finidori, Alina Badina, Christophe Glorion, Philippe Wicart
J Pediatr Orthop, 2021 Feb 1, PMID: 33165262 DOI: 10.1097/BPO.0000000000001708

– One-way self-expanding rod for early-onset scoliosis: early results of a clinical trial of 20 patients.
Lotfi Miladi, Nejib Khouri, Jerome Pradon, Caroline Elie, Jean-Marc Treluyer
Eur Spine J, 2021 Mar, PMID: 33486593 DOI: 10.1007/s00586-021-06732-4

– Editorial: Pediatric Long-Term Non-invasive Ventilation.
Brigitte Fauroux, Renato Cutrera
Front Pediatr, 2021 Feb 22, PMID: 33692978 PMCID: PMC7937638 DOI: 10.3389/fped.2021.654578

– Paediatric long term continuous positive airway pressure and noninvasive ventilation in France: A cross-sectional study.
Brigitte Fauroux, Sonia Khirani, Alessandro Amaddeo, Bruno Massenavette, Priscille Bierme, Jessica Taytard, Nathalie Stremler, Melisande Baravalle-Einaudi
Respir Med, 2021 May, PMID: 33848922 DOI: 10.1016/j.rmed.2021.106388

– Protuberant fibro-osseous lesion of the temporal bone: report of four cases and review of the literature.
J Bouaoud, F Larousserie, L Galmiche-Rolland, C Bouvier, A Picard, R H Khonsari
Int J Oral Maxillofac Surg, 2021 Dec, PMID: 33865660 DOI: 10.1016/j.ijom.2021.03.002

– Minimally Invasive Surgery for Neuromuscular Scoliosis: Results and Complications at a Minimal Follow-up of 5 Years.
Mathilde Gaume, Claudio Vergari, Nejib Khouri, Wafa Skalli, Christophe Glorion, Lotfi Miladi
Spine (Phila Pa 1976), 2021 Dec 15, PMID: 33907082 DOI: 10.1097/BRS.0000000000004082

– Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.
Alessandra Guasto, Valérie Cormier-Daire
Int J Mol Sci, 2021 Apr 21, PMID: 33919228 PMCID: PMC8122623 DOI: 10.3390/ijms22094321

– Central apnea and periodic breathing in children with underlying conditions.
Sergio Ghirardo, Alessandro Amaddeo, Lucie Griffon, Sonia Khirani, Brigitte Fauroux
J Sleep Res, 2021 Dec, PMID: 34075643 PMCID: PMC9286345 DOI: 10.1111/jsr.13388

– Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis.
Johanne Dubail, Valérie Cormier-Daire
Front Genet, 2021 Jun 16, PMID: 34220933 PMCID: PMC8242584 DOI: 10.3389/fgene.2021.642097

– The first European consensus on principles of management for achondroplasia.
Valerie Cormier-Daire, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Sérgio Bernardo de Sousa, Silvio Boero, Svein O Fredwall, Encarna Guillen-Navarro et al.
Orphanet J Rare Dis, 2021 Jul 31, PMID: 34332609 PMCID: PMC8325831 DOI: 10.1186/s13023-021-01971-6

– Minimally Invasive Fusionless Surgery for Scoliosis in Spinal Muscular Atrophy: Long-term Follow-up Results in a Series of 59 Patients.
Mathilde Gaume, Etienne Saudeau, Marta Gomez-Garcia de la Banda, Viviane Azzi-Salameh, Blaise Mbieleu, Delphine Verollet, Audrey Benezit, Jean Bergounioux et al.
J Pediatr Orthop, 2021 Oct 1, PMID: 34411042 DOI: 10.1097/BPO.0000000000001897

– Dental phenotype in Crouzon syndrome: A controlled radiographic study in 22 patients.
Ludovic Sicard, Quentin Hennocq, Giovanna Paternoster, Eric Arnaud, Muriel de la Dure-Molla, Roman Hossein Khonsari
Arch Oral Biol, 2021 Nov, PMID: 34500259 DOI: 10.1016/j.archoralbio.2021.105253

– Using continuous nasal airway pressure in infants with craniofacial malformations.
Alessandro Amaddeo, Lucie Griffon, Brigitte Fauroux
Semin Fetal Neonatal Med, 2021 Dec, PMID: 34556441 DOI: 10.1016/j.siny.2021.101284

– 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

• Nosology and classification of genetic skeletal disorders: 2019 revision.
  Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D, Superti-Furga A, Unger S, Warman ML.
  Am J Med Genet A, 2019 Dec, PMID: 31633310 DOI: 10.1002/ajmg.a.61366
• PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
  Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D, Wordsworth P; Deciphering Developmental Disorders Study, Smithson S.
  Am J Med Genet A, 2019 Sep, PMID: 31313512 DOI: 10.1002/ajmg.a.61282
• Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions. 
  Marzin P, Baujat G, Gensburger D, Huber C, Bole C, Panuel M, Finidori G, De la Dure M, Cormier-Daire V.
  Eur J Med Genet, 2020 Feb, PMID: 31319224 DOI: 10.1016/j.ejmg.2019.103729
• C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.
  Savarirayan R, Irving M, Bacino CA, Bostwick B, Charrow J, Cormier-Daire V, Le Quan Sang KH, Dickson P, Harmatz P, Phillips J, Owen N, Cherukuri A, Jayaram K, Jeha GS, Larimore K, Chan ML, Huntsman Labed A, Day J, Hoover-Fong J.
  N Engl J Med, 2019 Jul 4, PMID: 31269546 DOI: 10.1056/NEJMoa1813446
• Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.
  Bizaoui V, Michot C, Baujat G, Amouroux C, Baron S, Capri Y, Cohen-Solal M, Collet C, Dieux A, Geneviève D, Isidor B, Monnot S, Rossi M, Rothenbuhler A, Schaefer E, Cormier-Daire V.
  Clin Genet, 2019 Oct, PMID: 31237352 DOI: 10.1111/cge.13591
• Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes. 
  Pignolo RJ, Baujat G, Brown MA, De Cunto C, Di Rocco M, Hsiao EC, Keen R, Al Mukaddam M, Sang KLQ, Wilson A, White B, Grogan DR, Kaplan FS.
  Orphanet J Rare Dis, 2019 May 3, PMID: 31053156 PMCID: PMC6499994 DOI: 10.1186/s13023-019-1068-7

• SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects. 
  Dubail J, Huber C, Chantepie S, Sonntag S, Tüysüz B, Mihci E, Gordon CT, Steichen-Gersdorf E, Amiel J, Nur B, Stolte-Dijkstra I, van Eerde AM, van Gassen KL, Breugem CC, Stegmann A, Lekszas C, Maroofian R, Karimiani EG, Bruneel A, Seta N, Munnich A, Papy-Garcia D, De La Dure-Molla M, Cormier-Daire V.
  Nat Commun, 2018 Aug 6, PMID: 30082715 PMCID: PMC6078967 DOI: 10.1038/s41467-018-05191-8
• Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.
  Michot C, Le Goff C, Blair E, Blanchet P, Capri Y, Gilbert-Dussardier B, Goldenberg A, Henderson A, Isidor B, Kayserili H, Kinning E, Le Merrer M, Lyonnet S, Odent S, Simsek-Kiper PO, Quelin C, Savarirayan R, Simon M, Splitt M, Verhagen JMA, Verloes A, Munnich A, Baujat G, Cormier-Daire V.
  Eur J Hum Genet, 2018 Nov, PMID: 30006632 PMCID: PMC6189044 DOI: 10.1038/s41431-018-0135-1
• A retrospective study on sleep-disordered breathing in Morquio-A syndrome.
  Facchina G, Amaddeo A, Baujat G, Breton S, Michot C, Thierry B, James S, de Saint Denis T, Zerah M, Khirani S, Cormier-Daire V, Fauroux B.
  Am J Med Genet A, 2018 Dec, PMID: 30450712 DOI: 10.1002/ajmg.a.40642
• FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.
  Doyard M, Bacrot S, Huber C, Di Rocco M, Goldenberg A, Aglan MS, Brunelle P, Temtamy S, Michot C, Otaify GA, Haudry C, Castanet M, Leroux J, Bonnefont JP, Munnich A, Baujat G, Lapunzina P, Monnot S, Ruiz-Perez VL, Cormier-Daire V.
  J Med Genet, 2018 Apr, PMID: 29358272 DOI: 10.1136/jmedgenet-2017-104999

• Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.
  Le Goff C, Rogers C, Le Goff W, Pinto G, Bonnet D, Chrabieh M, Alibeu O, Nistchke P, Munnich A, Picard C, Cormier-Daire V.
  Am J Hum Genet, 2016 Aug 4, PMID: 27426734 PMCID: PMC4974068 DOI: 10.1016/j.ajhg.2016.06.005

• 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

• 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

• IMPAD1 mutations in two Catel-Manzke like patients.
  Nizon M, Alanay Y, Tuysuz B, Kiper PO, Geneviève D, Sillence D, Huber C, Munnich A, Cormier-Daire V.
  Am J Med Genet A, 2012 Sep, PMID: 22887726 DOI: 10.1002/ajmg.a.35504
• Genotypes and phenotypes of children with SHOX deficiency in France.
  Rosilio M, Huber-Lequesne C, Sapin H, Carel JC, Blum WF, Cormier-Daire V.
  J Clin Endocrinol Metab, 2012 Jul, PMID: 22518848 DOI: 10.1210/jc.2011-3460

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.
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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.
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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.
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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.
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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.
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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 ».
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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 .
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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.
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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.
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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.
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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.
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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?
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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.
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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.
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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.
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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.
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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.
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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.
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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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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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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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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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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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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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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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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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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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In each episode, the Imagine Institute immerses viewers in the daily life of a child suffering from a genetic disease. A trio made up of a patient and/or a patient’s parent, a doctor from Necker-Enfants malades hospital and a researcher from Imagine Institute are brought together in this 30-minute program, to discuss the experiences and journeys of the child and his or her family. Care and scientific advances are at the heart of the discussions of all these participants in an adventure to the heart of DNA, real or figurative.

Discover today the story of Ulysse, who suffers from achondroplasia.
This is Ulysse’s story, but also that of his mom Marie Liesse and of Drs Geneviève Baujat and Laurence Legeai-Mallet of the Imagine Institute, who fight genetic diseases on a daily basis to improve patients’ lives. They crossed paths and shared their experiences with Elodie Chabrol, the host of this podcast.
> Explore this story told in four voices