Results 21 to 30 of about 1,239 (147)
POSSIBILITIES AND LIMITS OF THERAPY IN A CASE OF HYPOCHONDROPLASIA [PDF]
Romanian Journal of Pediatrics, 2014 Hypocondroplasia is an autosomal dominant genetic disease caused by mutations in the receptor 3 of the fi broblast growth factor gene. The short stature’s negative impact on quality of life can be improved by early diagnosis and prompt recombinant growth
Monica Alexoae +3 more
doaj +1 more source
Growth reference charts for children with hypochondroplasia [PDF]
, 2023 Hypochondroplasia (HCH) is a rare skeletal dysplasia causing mild short stature. There is a paucity of growth reference charts for this population.
Cheung, Moira S. +18 more
core +4 more sources
Hypochondroplasia and temporal lobe epilepsy - A series of 4 cases
, 2022 Ahmadi M, Herting A, Müffelmann B, et al. Hypochondroplasia and temporal lobe epilepsy - A series of 4 cases. Epilepsy and Behavior . 2022;126: 108479.Hypochondroplasia is a skeletal dysplasia syndrome with an autosomal dominant inheritance.
Müffelmann, Birgitt +7 more
core +1 more source
Molecular genetic analysis and growth hormone response in patients with syndromic short stature
BMC Medical Genomics, 2021 Background Syndromic short stature is a genetic and phenotypic heterogeneous disorder with multiple causes. This study aims to identify genetic causes in patients with syndromic short stature of unknown cause and evaluate the efficacy of the growth ...
Huihui Sun, Na Li, Naijun Wan
doaj +1 more source
Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population. [PDF]
PLoS ONE, 2015 Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities,
Eun Jin Woo +3 more
doaj +1 more source
JCRPE, 2022 Odontochondrodysplasia (ODCD, OMIM #184260) is a rare, non-lethal skeletal dysplasia characterized by involvement of the spine and metaphyseal regions of the long bones, pulmonary hypoplasia, short stature, joint hypermobility, and dentinogenesis ...
Burcu Yeter +3 more
doaj +1 more source
Failure to diagnose hypochondroplasia by prenatal diagnosis: a case report
BMC Pediatrics, 2023 Background Hypochondroplasia (HCH) is a common nonlethal skeletal dysplasia caused by pathogenic variations in the fibroblast growth factor receptor 3 (FGFR3) gene, and HCH has similar clinical manifestations with achondroplasia (ACH), which can be ...
Hua Xie +4 more
doaj +1 more source
Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia. [PDF]
Adv TherINTRODUCTION: Hypochondroplasia (HCH) is a disproportionate short-statured skeletal dysplasia condition caused by gain-of-function pathogenic variants in the fibroblast growth receptor 3 gene (FGFR3).
Irving M +17 more
europepmc +2 more sources
Taiwanese Journal of Obstetrics & Gynecology, 2013 Objective: We describe a prenatal molecular diagnosis of hypochondroplasia (HCH) in a pregnancy not at risk of HCH and review the literature on prenatal diagnosis of HCH. Case report: A 28-year-old primigravid woman was referred for genetic counseling at
Chih-Ping Chen +5 more
doaj +1 more source
Molecular genetic testing of FGFR3 gene mutation in the differential diagnosis of achondroplasia and hypochondroplasia [PDF]
, 2015 Aims. The differential diagnosis of achondroplasia and hypochondroplasia in Ukraine is based on the typical clinical and radiologic features that limits accurate diagnosis and leads to many false-positive diagnoses when checked against a complete ...
Дмитрук, І.М. +5 more
core +2 more sources