Skeletal Dysplasia: A Case Report
Diagnostics, 2023 This paper presents a rare case of fetal hydrops detected at just 23 weeks of gestation in a 22-year-old woman’s first pregnancy. The fetal ultrasound revealed severe skeletal anomalies, craniofacial deformities, and thoracic abnormalities, suggesting a ...
Nicolae Gică +6 more
doaj +1 more source
Thanatophoric dysplasia, an enigmatic dilemma: a case report [PDF]
, 2017 Thanatophoric dysplasia is a rare, fatal form of skeletal dysplasia that affects fetus in utero. It is characterized by marked underdevelopment of fetal skeleton and short limbs.
Rai, Chanda +3 more
core +1 more source
THANATOPHORIC DYSPLASIA: LITERATURE REVIEW AND CLINICAL CASE IN MONOCHORIC DIAMNIOTIC TWINS
Неонатологія, хірургія та перинатальна медицина, 2023 Thanatophoric dysplasia, TD (OMIM: 187600, 87601) belongs to the group of FGFR3 chondrodysplasias and is divided into types I and II. The incidence of TD is approximately 1:20,000-50,000 newborns. TD is usually caused by pathogenic variants in the FGFR3
І. Ластівка +5 more
doaj +1 more source
The unexpected presence of a huge cystic hygroma with thanatophoric dysplasia type I: a case report [PDF]
, 2015 Introduction: The presence of a thin-walled, multicystic structure posterior to the fetal head and neck with an intact vertebral column is known as a cystic hygroma. Thanatophoric dysplasia is the most lethal skeletal dysplasia.
Mohammed Khairy Ali +9 more
core +1 more source
Thanatophoric dysplasia: a case report [PDF]
, 2019 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 ...
Sharma, Astha +5 more
core +1 more source
Thanatophoric dysplasia- a rare cause of stillbirth and perinatal mortality: a case report [PDF]
, 2021 Lethal skeletal dysplasia is estimated to occur in 0.95 per 10,000 deliveries. Thanatophoric dysplasia affects about 1in 25000 to 50000 births. The term thanatophoric is Greek word for “death bearing”.
Lobo, Anandi +2 more
core +1 more source
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach. [PDF]
Prenat Diagn, 2015 Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive ...
Chitty LS +6 more
europepmc +3 more sources
Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice
Prenatal Diagnosis, EarlyView.ABSTRACT International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently,
Eran Ashwal, David Chitayat
wiley +1 more source
K-Ras and β-catenin mutations cooperate with Fgfr3 mutations in mice to promote tumorigenesis in the skin and lung, but not in the bladder [PDF]
, 2011 The human fibroblast growth factor receptor 3 (FGFR3) gene is frequently mutated in superficial urothelial cell carcinoma (UCC). To test the functional significance of FGFR3 activating mutations as a ‘driver’ of UCC, we targeted the expression of mutated
Taketo, M.M. +17 more
core +1 more source
Neurodevelopmental and neurological features in children with hypochondroplasia
Developmental Medicine &Child Neurology, EarlyView.Abstract Aim To assess neurodevelopmental and neurological features, including neuroimaging abnormalities, in children with molecularly confirmed hypochondroplasia. Method A retrospective cohort study of children with molecularly confirmed hypochondroplasia seen at Evelina London Children's Hospital skeletal dysplasia service was performed.
Megan F. Baxter +3 more
wiley +1 more source