scholarly journals Prenatal Diagnosis of Skeletal Dysplasia and Review of the Literature

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Bashiru Babatunde Jimah ◽  
Teresa Aba Mensah ◽  
Kofi Ulzen-Appiah ◽  
Benjamin Dabo Sarkodie ◽  
Dorothea Akosua Anim ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Potential Contribution ◽  
Ultrasound Scan ◽  
Thanatophoric Dysplasia ◽  
Amniotic Fluid Index ◽  
Fgfr3 Gene ◽  
Local Setting ◽  
Characteristic Features ◽  
Female Baby

Introduction. Obstetric ultrasonography is routinely used to screen for fetal anomalies. Thanatophoric dysplasia (TD) is one of the common though rare lethal skeletal dysplasia, detected during routine ultrasound scan. TD is caused by a mutation in FGFR3 gene. Characteristic features include shortening of limbs, macrocephaly and platyspondyly. In our local setting, it is common to miss the diagnosis in the early scans due to lack of expertise of the sonographers. To the best of our knowledge, this is the first publication from Ghana. Case Presentation. We present the case of a 33-year-old woman who was referred to the facility on account of ultrasound scan report suggestive of thanatophoric dysplasia type 1 at 34 weeks of a female baby. The diagnosis was not made despite the mother being a regular antenatal attendant, until a fifth scan done at 34 weeks reported features suggestive of thanatophoric dysplasia. The ultrasound scan features included a biparietal diameter of 37weeks, femur length—24weeks, narrowed thoracic cage with hypoplastic lungs and short ribs. The liquor volume was increased with amniotic fluid index (AFI) of 38.4 cm. The femur, tibia, fibula, humerus, ulna, and radius were shortened (micromelia). The diagnosis of thanatophoric dysplasia type 1 was confirmed on autopsy. Conclusion. This report was aimed to highlight the potential contribution of ultrasound scan in the diagnosis of thanatophoric dysplasia in our setting.

scholarly journals Thanatophoric dysplasia: a case report

2019 ◽  
Vol 8 (2) ◽  
pp. 758
Author(s):  
Uruj Jahan ◽  
Astha Sharma ◽  
Neena Gupta ◽  
Shruti Gupta ◽  
Fatima Usmani ◽  
...  
Keyword(s):  
Rare Case ◽  
Consanguineous Marriage ◽  
Thanatophoric Dysplasia ◽  
New Mutation ◽  
High Importance ◽  
Dysmorphic Features ◽  
Fgfr3 Gene ◽  
Pain Abdomen ◽  
Female Baby ◽  
Lethal Skeletal Dysplasia

Thanatophoric Dysplasia (TD) is a congenital, sporadic and most lethal skeletal dysplasia caused by new mutation in FGFR3 gene. Authors report such a rare case of a term alive baby with dysmorphic features, born to an unbooked, 40 years old G4P3+0 with non-consanguineous marriage; admitted at 9 months of gestation to present hospital with complain of pain abdomen for 2 days. Patient delivered a term female baby of vaginally which had delayed cry after birth, Admitted in NICU immediately with respiratory distress. The baby looked dysmorphic and suggested TD as most likely diagnosis. The case is being reported for its rarity and for high importance of early booking and anomaly scan. Early diagnosis is important since it provides alternative options of termination of pregnancy when an affected foetus is detected.

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

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.

Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1

2015 ◽  
Vol 35 (7) ◽  
pp. 685-687
Author(s):  
L. Zhen ◽  
M. Pan ◽  
J. Han ◽  
X. Yang ◽  
C. Liao ◽  
...  
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
Thanatophoric Dysplasia

Procoagulant platelets: are they necrotic?

Blood ◽  
2010 ◽  
Vol 116 (12) ◽  
pp. 2011-2018 ◽  
Author(s):  
Shaun P. Jackson ◽  
Simone M. Schoenwaelder
Keyword(s):  
Cell Death ◽  
Inflammatory Responses ◽  
Necrotic Cell Death ◽  
Potential Contribution ◽  
Mammalian Development ◽  
Necrotic Cell ◽  
Storage Lesion ◽  
Functional Changes ◽  
Platelet Storage Lesion ◽  
Characteristic Features

AbstractApoptosis and necrosis represent distinct cell death processes that regulate mammalian development, physiology and disease. Apoptosis characteristically leads to the silent destruction and removal of cells in the absence of an inflammatory response. In contrast, necrotic cell death can induce physiologic inflammatory responses linked to tissue defense and repair. Although anucleate, platelets undergo programmed cell death, with apoptosis playing an important role in clearing effete platelets from the circulation. While it has long been recognized that procoagulant platelets exhibit characteristic features of dying cells, recent studies have demonstrated that platelet procoagulant function can occur independent of apoptosis. A growing body of evidence suggest that the biochemical, morphologic and functional changes underlying agonist-induced platelet procoagulant function are broadly consistent with cell necrosis, raising the possibility that distinct death pathways regulate platelet function and survival. In this article, we will discuss the mechanisms underlying apoptotic and necrotic cell death pathways and examine the evidence linking these pathways to the platelet procoagulant response. We will also discuss the potential contribution of these pathways to the platelet storage lesion and propose a simplified nomenclature to describe procoagulant platelets.

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