Results 11 to 20 of about 6,534 (202)

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   +2 more sources

Diagnosis of Achondroplasia at Birth: A Case Report

Journal of Nepal Medical Association, 2020
Autosomal dominant mutations in fibroblast growth factor receptor 3 cause achondroplasia, the most common form of dwarfism in humans. Achondroplasia is a genetic disorder causing rhizomelic shortening of limbs. Head is often large with prominent forehead
Suzit Bhusal, Uttara Gautam, Rajan Phuyal, Robin Choudhary, Sunil Raja Manandhar, Aliska Niroula   +5 more
doaj   +2 more sources

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

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

Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures [PDF]

Orphanet Journal of Rare Diseases, 2023
Background Achondroplasia is an autosomal dominant disorder mainly affecting bony growth, typically resulting in markedly short stature. From a neurosurgical viewpoint, patients sometimes develop spinal cord compression at the narrowed foramen magnum and
Jong Seok Lee, Youngbo Shim, Tae-Joon Cho, Seung-Ki Kim, Jung Min Ko, Ji Hoon Phi   +5 more
doaj   +2 more sources

Advances in the treatment of achondroplasia

Journal of Education, Health and Sport
Achondroplasia is a condition resulting from a missense mutation in the FGFR3 (fibroblast growth factor receptor 3) gene, representing the predominant etiology of short height in humans.
Patrycja Jędrzejewska-Rzezak
doaj   +3 more sources

Optimising care and follow-up of adults with achondroplasia

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
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Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome [PDF]

Case Reports in Obstetrics and Gynecology, 2015
Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration.
Esther Perez-Carbajo, Ignacio Zapardiel, Luis Sanfrutos-Llorente, Sara Cruz-Melguizo, Cristina Martinez-Payo, Enrique Iglesias-Goy   +5 more
doaj   +2 more sources

Interpretation on Key Points of International Consensus Statement on the Diagnosis, Multidisciplinary Management and Lifelong Care of Individuals with Achondroplasia [PDF]

Zhongguo quanke yixue, 2023
Achondroplasia is a rare disease leading to growth and developmental disorders in children, mainly manifested as skeletal dysplasia and disproportionate short stature, which can lead to respiratory abnormalities, hearing loss, spinal involvement, limb ...
SUN Wenwen, LIU Jing, KONG Dexian, ZHANG Zhimin, MA Huijuan
doaj   +1 more source

Achondroplasia and its oral manifestations

Journal of Primary Care Dentistry and Oral Health, 2023
Achondroplasia is the most common type of skeletal dysplasia that manifests with stunted stature and disproportionate limb shortening. Achondroplasia is of special interest in dentistry because of its typical craniofacial manifestations.
P N Nanmaran, Topi Nyodu, Anisha Bag, Subir Sarkar, Somen Roychowdhury   +4 more
doaj   +1 more source

Successful Delivery in a Woman With Achondroplasia: A Case Report

Acta Medica Iranica, 2017
Achondroplasia is an autosomal dominant disease which is characterized by limb shortening and narrow trunk, and macrocephaly. Women with achondroplasia suffer from infertility, menorrhagia, dysmenorrhoea, leiomyomata and early menopause.
Mahbooheh Shirazi, Fateme Golshahi, Nastaran Teimoory   +2 more
doaj   +1 more source