Results 1 to 10 of about 323 (109)

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations [PDF]

Orphanet Journal of Rare Diseases, 2022
Background Achondroplasia is the most common form of skeletal dysplasia, with serious comorbidities and complications that may occur from early infancy to adulthood, requiring lifelong management from a multidisciplinary team expert in the condition The ...
Valerie Cormier-Daire, Moeenaldeen AlSayed, Inês Alves, Joana Bengoa, Tawfeg Ben-Omran, Silvio Boero, Svein Fredwall, Catherine Garel, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Sérgio B. Sousa, Klaus Mohnike   +14 more
doaj   +3 more sources

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis [PDF]

Orphanet Journal of Rare Diseases, 2023
Foramen magnum stenosis is a serious, and potentially life-threatening complication of achondroplasia. The foramen magnum is smaller in infants with achondroplasia, compared with the general population, and both restricted growth in the first 2 years and
Melita Irving, Moeenaldeen AlSayed, Paul Arundel, Geneviève Baujat, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Svein Fredwall, Encarna Guillen-Navarro, Heike Hoyer-Kuhn, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa   +15 more
doaj   +3 more sources

The first European consensus on principles of management for achondroplasia [PDF]

Orphanet Journal of Rare Diseases, 2021
Achondroplasia is the most common type of skeletal dysplasia, caused by a recurrent pathogenic variant in the fibroblast growth factor receptor 3 (FGFR3). The management of achondroplasia is multifaceted, requiring the involvement of multiple specialties
Valerie Cormier-Daire, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Sérgio Bernardo de Sousa, Silvio Boero, Svein O. Fredwall, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Zagorka Peijin, Klaus Mohnike   +12 more
doaj   +3 more sources

Optimising care and follow-up of adults with achondroplasia [PDF]

Orphanet Journal of Rare Diseases, 2022
Background Achondroplasia is a genetic condition that can cause complications across the lifespan. While complications in childhood are well documented, the natural history of achondroplasia in adults has, until recently, been relatively lacking, and ...
Svein Fredwall, Yana Allum, Moeenaldeen AlSayed, Inês Alves, Tawfeg Ben-Omran, Silvio Boero, Valerie Cormier-Daire, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa, Michael Wright   +14 more
doaj   +2 more sources

Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum [PDF]

Orphanet Journal of Rare Diseases
Due to the craniofacial anatomy of people with achondroplasia, sleep-disordered breathing (SDB) occurs more frequently than in the average stature population.
Brigitte Fauroux, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Silvio Boero, Mieke Boon, Valérie Cormier-Daire, Svein Fredwall, Encarna Guillen-Navarro, Melita Irving, Philip Kunkel, Núria Madureira, Mohamad Maghnie, Josef Milerad, Klaus Mohnike, Geert Mortier, Lino Nobili, Zagorka Pejin, Marco Sessa, Sérgio B. Sousa   +18 more
doaj   +2 more sources

Recommendations for management of infants and young children with achondroplasia: Does clinical practice align? [PDF]

Orphanet Journal of Rare Diseases
Background Achondroplasia is one of the most prevalent forms of skeletal dysplasia. Lifelong follow-up by an experienced multidisciplinary team is required, particularly during the first 2 years.
Encarna Guillen-Navarro, Moeenaldeen AlSayed, Inês Alves, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Brigitte Fauroux, Svein Fredwall, Melita Irving, Philip Kunkel, Christian Lampe, Ekkehart Lausch, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Zagorka Pejin, Marco Sessa, Sérgio B. Sousa   +17 more
doaj   +2 more sources

The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia. [PDF]

Prenat Diagn
ABSTRACT Objectives Achondroplasia is the most common form of skeletal dysplasia and is usually suspected in the third trimester of pregnancy based on abnormal sonographic findings. Non‐invasive prenatal diagnosis (NIPD), based on the detection of pathogenic FGFR3 variants in maternal plasma, provides an accurate genetic confirmation.
Verebi C, Gravrand V, Guerini C, Anselem O, Vaucouleur N, Boimard LO, Ben Ouazzou R, Demirtas C, Leturcq F, Bienvenu T, Tsatsaris V, Pannier E, Nectoux J.   +12 more
europepmc   +2 more sources

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy. [PDF]

Am J Med Genet A
Abstract Germline pathogenic variants in the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide clinical spectrum characterized by distinct facial features, short stature, predisposition to cancer, and variable anomalies
Pierpont EI, Bennett AM, Schoyer L, Stronach B, Anschutz A, Borrie SC, Briggs B, Burkitt-Wright E, Castel P, Cirstea IC, Draaisma F, Ellis M, Fear VS, Frone MN, Flex E, Gelb BD, Green T, Gripp KW, Khoshkhoo S, Kieran MW, Kleemann K, Klein-Tasman BP, Kontaridis MI, Kruszka P, Leoni C, Liu CZ, Merchant N, Magoulas PL, Moertel C, Prada CE, Rauen KA, Roelofs R, Rossignol R, Sevilla C, Sevilla G, Sheedy R, Stieglitz E, Sun D, Tiemens D, White F, Wingbermühle E, Wolf C, Zenker M, Andelfinger G.   +43 more
europepmc   +2 more sources

The management of achondroplasia in Italy: results from a Delphi panel based on real-world experience. [PDF]

Front Pediatr, 2023
BackgroundAchondroplasia is a rare genetic disorder caused by a mutation in the FGFR3 gene, leading to skeletal changes and other systemic complications that greatly impact the patient's quality of life.
Maghnie M, Bruzzi P, Casilli G, Lidonnici D, Scarano G.   +4 more
europepmc   +3 more sources

What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review. [PDF]

Genes (Basel), 2023
Sforza E, Margiotta G, Giorgio V, Limongelli D, Proli F, Kuczynska EM, Leoni C, De Rose C, Trevisan V, Romeo DM, Calandrelli R, De Corso E, Massimi L, Palmacci O, Rigante D, Zampino G, Onesimo R.   +16 more
europepmc   +1 more source