Results 21 to 30 of about 1,159 (180)

Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study. [PDF]

Acta Obstet Gynecol Scand
Of the 147 SD fetuses, 58 cases with negative CMA results underwent WES, and 21 genes with pathogenic/likely pathogenic variants were detected in 21 cases, including FGFR3 (n = 11), COL1A1 (n = 2), COL1A2 (n = 1), RUNX2 (n = 1), COL2A1 (n = 1), LMX1B (n = 1), GLI3 (n = 1), DYNC2H1 (n = 1), ALPL (n = 1), and SHOX (n = 1).
Jiang M, Zhang B, Wang J, Qiao W, Mao X, Yu B.   +5 more
europepmc   +2 more sources

Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia. [PDF]

Adv Ther
INTRODUCTION: 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, Greco E, Cocca A, Dauber A, Jorge AAL, Fredwall S, Patterson A, Llerena J, Ozono K, Santos R, Kelly D, Muslimova E, Reddi T, Shediac R, Savarirayan R, Sutton VR, Hoover-Fong J, Cheung M.   +17 more
europepmc   +2 more sources

Hypochondroplasia. [PDF]

Archives of Disease in Childhood, 1978
Clinical, radiological, and genetic features are described in 3 patients with hypochondroplasia. Early recognition of this disorder is possible from the abnormal body proportions with short limbs and lumbar lordosis without facial stigmata of achondroplasia. Radiological confirmation is possible provided a full skeletal survey is made.
J F, Glasgow, N C, Nevin, P S, Thomas
openaire   +2 more sources

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, Aurica Rugina, Evelina Moraru, Ileana Ioniuc   +3 more
doaj   +1 more source

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, Polster, Tilman, Brandt, Christian, Herting, Arne, Ahmadi, Mehdi, Abou Jamra, Rami, Bien, Christian, Wörmann, Friedrich   +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, Won-Joon Lee, Kyung-Seok Hu, Jae Joon Hwang   +3 more
doaj   +1 more source

A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia

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, Ayca Dilruba Aslanger, Gözde Yeşil, Nursel H. Elçioğlu   +3 more
doaj   +1 more source

Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia

JBMR Plus, Volume 7, Issue 12, December 2023., 2023
We identified differences in cytokine expression in multiple types of pediatric skeletal dysplasia as compared to typically growing children. Four of the 12 analyzed cytokines demonstrated elevated expression above control levels in all of the dysplasia cohorts (IL‐12, IL‐13, IP‐10, RANTES) and 2 demonstrated expression below control levels across all ...
David A. O'Connell, Ricki S. Carroll, Angela L. Duker, Andrea J. Schelhaas, Marjorie M. Postell, Paul T. Fawcett, Michael B. Bober   +6 more
wiley   +1 more source

Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: Prenatal diagnosis and literature review

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, Yi-Ning Su, Tzu-Hung Lin, Tung-Yao Chang, Jun-Wei Su, Wayseen Wang   +5 more
doaj   +1 more source