Results 51 to 60 of about 5,366 (132)
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1372-1377, June 2026.ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline +3 more
wiley +1 more source
Coping and quality of life of parents of children with achondroplasia—a narrative review
Frontiers in MedicineBackgroundCaring for individuals with a chronic disease imposes a substantial burden on parents, significantly impacting their quality of life. For parents of children with achondroplasia, caregiving has notable implications for coping mechanisms and ...
Adekunle Adedeji +11 more
doaj +1 more source
Inclusion of adoption as a pregnancy management option in prenatal genetic counseling practice
Journal of Genetic Counseling, Volume 35, Issue 3, June 2026.Abstract The current study assessed prenatal genetic counselors' experiences, comfort levels, and preparedness in discussing adoption as a pregnancy management option following a prenatal diagnosis of a non‐life‐limiting anomaly and/or genetic condition.
Emma Billings +7 more
wiley +1 more source
Achondroplasia in the Premature Infant: An Elusive Diagnosis in the Neonatal Intensive Care Unit
American Journal of Perinatology Reports, 2017 Achondroplasia is a difficult prenatal diagnosis to make before the late second and third trimester. We describe two cases where an infant was born prematurely with no overt signs of achondroplasia. Despite multiple chest and abdominal radiographs during
Kimberly E. Fagen +3 more
doaj +1 more source
Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association
Endocrinology, Diabetes & Metabolism Case Reports, 2018 A 40-year-old man with achondroplasia presented with symptoms of hypogonadism, low libido and gynaecomastia. He was found to have hypergonadotropic hypogonadism, and karyotype and fluorescent in situ hybridisation analysis showed SRY-positive 46, XX ...
Yang Timothy Du, Angus Rutter, Jui Ho
doaj +1 more source
DiagnosticsBackground/Objectives: Achondroplasia is the most common skeletal dysplasia, affecting 1 in 25,000 births. Limited research exists on the assessment of functional independence using standardized tools in children and adolescents with achondroplasia.
Chung-Lin Lee +16 more
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Sustained hip flexion contracture after femoral lengthening in patients with achondroplasia
BMC Musculoskeletal Disorders, 2018 Background Hip flexion contracture often occurs after femoral lengthening in patients with achondroplasia, but few studies have investigated its development in these patients.
Mi Hyun Song +3 more
doaj +1 more source
Achondroplasia: Current concept of orthopaedic management
Journal of Children's OrthopaedicsAchondroplasia, the most common form of inherited disproportionate short stature, is caused by mutations in the fibroblast growth factor receptor 3 gene.
Gabriel T Mindler +4 more
doaj +1 more source
Genetics in Medicine OpenPurpose: The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden.
Juan Llerena, Jr +17 more
doaj +1 more source
Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene
The Turkish Journal of Pediatrics, 2003 Achondroplasia, the most common form of skeletal dysplasia in man, has autosomal dominant inheritance and causes severe dwarfism. More than 90% of patients with achondroplasia have a G to A transversion or G to C transversion at position 1138 of ...
Sacide Pehlivan +6 more
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