scholarly journals P02.09: Prenatal diagnosis and genetic counselling of FGFR3 gene-related fetal skeletal dysplasia with analysis of 13 clinical cases

2018 ◽  
Vol 52 ◽  
pp. 144-144
Author(s):  
Y. Liu ◽  
Q. Wu
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Counselling ◽  
Skeletal Dysplasia ◽  
Fgfr3 Gene ◽  
Clinical Cases

scholarly journals Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience

2009 ◽  
Vol 26 (8) ◽  
pp. 455-460 ◽  
Author(s):  
M. J. Trujillo-Tiebas ◽  
M. Fenollar-Cortés ◽  
I. Lorda-Sánchez ◽  
J. Díaz-Recasens ◽  
A. Carrillo Redondo ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Skeletal Dysplasia ◽  
Gene Mutations ◽  
Fgfr3 Gene

Molecular therapeutic strategies for FGFR3 gene-related skeletal dysplasia

2017 ◽  
Vol 95 (12) ◽  
pp. 1303-1313 ◽  
Author(s):  
Jia Chen ◽  
Jiaqi Liu ◽  
Yangzhong Zhou ◽  
Sen Liu ◽  
Gang Liu ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Therapeutic Strategies ◽  
Fgfr3 Gene ◽  
Molecular Therapeutic

Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management

2020 ◽  
Vol 40 (5) ◽  
pp. 577-584 ◽  
Author(s):  
Jin Han ◽  
Yan‐Dong Yang ◽  
Yi He ◽  
Wen‐Jie Liu ◽  
Li Zhen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Skeletal Dysplasia ◽  
Prenatal Counseling

scholarly journals Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Lara Pemberton ◽  
Robert Barker ◽  
Anna Cockell ◽  
Vijaya Ramachandran ◽  
Andrea Haworth ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Skeletal Dysplasia ◽  
Genetic Disorder ◽  
Specific Gene ◽  
Ultrasound Images ◽  
Whole Exome ◽  
Lethal Skeletal Dysplasia

Abstract Background Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features. This study describes the first prenatal diagnosis of OCS. Case presentation In this case prenatal ultrasound images were suggestive of a serious but non-lethal skeletal dysplasia. Due to the uncertain prognosis the parents were offered Whole Exome Sequencing (WES), which identified a specific gene mutation in the FAMIIIa gene. This mutation had previously been detected in two cases and was lethal in both perinatally. This established the diagnosis, a clear prognosis and allowed informed parental choice regarding ongoing pregnancy management. Conclusions This case report supports the use of targeted WES prenatally to confirm the underlying cause and prognosis of sonographically suspected abnormalities.

Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism

1996 ◽  
Vol 19 (4) ◽  
pp. 581-587 ◽  
Author(s):  
W. Ruitenbeek ◽  
U. Wendel ◽  
B. C. J. Hamel ◽  
J. M. F. Trijbels
Keyword(s):  
Prenatal Diagnosis ◽  
Energy Metabolism ◽  
Genetic Counselling ◽  
Mitochondrial Energy Metabolism

scholarly journals Three-dimensional helical computed tomography in prenatal diagnosis of fetal skeletal dysplasia

2013 ◽  
Vol 42 (2) ◽  
pp. 161-168 ◽  
Author(s):  
G. Macé ◽  
P. Sonigo ◽  
V. Cormier-Daire ◽  
M.-C. Aubry ◽  
J. Martinovic ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Prenatal Diagnosis ◽  
Skeletal Dysplasia ◽  
Three Dimensional ◽  
Helical Computed Tomography

scholarly journals Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation

2019 ◽  
Vol 09 (01) ◽  
pp. 048-052
Author(s):  
Rosario Ramos Mejía ◽  
Miriam Aza-Carmona ◽  
Mariana del Pino ◽  
Karen E. Heath ◽  
Virginia Fano ◽  
...  
Keyword(s):  
Short Stature ◽  
Skeletal Dysplasia ◽  
Fibroblast Growth Factor Receptor ◽  
Growth Factor Receptor ◽  
Missense Variant ◽  
Radiologic Evaluation ◽  
Radiologic Findings ◽  
Fgfr3 Gene ◽  
Fgfr3 Mutation ◽  
Fgfr3 Mutations

AbstractHypochondroplasia (HCH), a skeletal dysplasia caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, is characterized by disproportionate short stature. The p.Asn540Lys (p.N540K) mutation accounts for ∼50 to 70% of cases of HCH, but novel FGFR3 mutations are described. We present a family with disproportionately short stature and mild radiologic findings seen in a major public pediatric hospital in Argentina. A previously undescribed heterozygous missense variant in FGFR3, NM_000142.4:667C > T; p.(Arg223Cys) was identified. The predicted phenotype correlates well with the mild auxologic and radiologic characteristics observed. In this case, disproportionately short stature raised the suspicion of skeletal dysplasia.

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