Results 21 to 30 of about 143,001 (214)
Thanatophoric Dysplasia : Antenatal Diagnosis. [PDF]
Med J Armed Forces India, 2009 Skeletal dysplasias constitute a heterogeneous group of bone growth disorders resulting in abnormal shape and size of the skeleton. The existing classification is complicated because many are referred to by eponyms. Thanatophoric dysplasia is the most common form of skeletal dysplasia that is lethal in neonatal period.
Sahu S, Kaur P.
europepmc +4 more sources
A Case of Thanatophoric Dysplasia Type I with Fetal Hydrops in the First Trimester [PDF]
Case Reports in Obstetrics and Gynecology, 2016 During a routine prenatal exam, a 36-year-old female in her third pregnancy was diagnosed with fetal hydrops at 11 weeks of gestation. The pregnancy was monitored with periodic ultrasounds; however, spontaneous resolution was not observed. Amniotic fluid
Giannina Calongos +3 more
doaj +2 more sources
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”.
Agrawal, Priti +2 more
core +3 more sources
Revista Chilena de Obstetricia y GinecologíaThanatophoric dysplasia type 2 (TDII) is a rare and intractable genetic disease caused by de novo mutations in the FGFR3 gene, characterized by severe skeletal anomalies; this condition is lethal during the perinatal period and has a prevalence of 0.21-0.
Wilmar Saldarriaga +2 more
doaj +2 more sources
Journal of Diagnostic Medical Sonography, 1994 A case of thanatophoric dysplasia was reported in the fetus of a 39-year-old woman. The diagnosis was made on ultrasound examination at 21 weeks of gestation, when shortened long bones, cloverleaf skull, and narrow thorax were observed. Due to the lethality of this type of dwarfism, the pregnancy was terminated.
Wendy Schade Griffis
openaire +2 more sources
Thanatophoric skeletal dysplasia: a rare case report [PDF]
International Journal of Research in Medical SciencesA diverse range of bone growth disorders known as skeletal dysplasias are brought on by new mutations in the FGFR3 gene, which cause abnormalities in the size and shape of the skeleton.
Arora, Rishabh +1 more
core +3 more sources
Growth and development in thanatophoric dysplasia - an update 25 years later. [PDF]
Clin Case Rep, 2013 Nikkel SM, Major N, King WJ.
europepmc +3 more sources
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 Chitty LS +6 more
europepmc +3 more sources
Journal of Nepal Paediatric Society, 1970 doi:10.3126/jnps.v29i1.1599J. Nepal Paediatr. Soc.
DR Aryal, K Subedi, SM Gurubacharya
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Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. [PDF]
Prenat Diagn, 2013 Chitty LS +5 more
europepmc +3 more sources