نتایج جستجو برای: thanatophoric
تعداد نتایج: 254 فیلتر نتایج به سال:
OBJECTIVES Thanatophoric dysplasia (TD), the most common of the congenital lethal skeletal dysplasias occurs sporadically in 1/64,000-100,000 live births. To the best of our knowledge, the in utero attitudes and behaviours of such babies with serial ultrasound scans have not been previously described. We present the in utero third trimester sonographic behaviors of TD in a 22-year-old primigra...
Activating mutations in FGFR3 cause achondroplasia and thanatophoric dysplasia, the most common human skeletal dysplasias. In these disorders, spinal canal and foramen magnum stenosis can cause serious neurologic complications. Here, we provide evidence that FGFR3 and MAPK signaling in chondrocytes promote synchondrosis closure and fusion of ossification centers. We observed premature synchondr...
Achondroplasia, the most common form of short-limbed dwarfism in humans, occurs between 1 in 15,000 and 40,000 live births. More than 90% of cases are sporadic and there is, on average, an increased paternal age at the time of conception of affected individuals. More then 97% of persons with achondroplasia have a Gly380Arg mutation in the transmembrane domain of the fibroblast growth factor rec...
Global mean surface air temperature (Ta) has been reported to have risen by 0.74°C over the last 100 years. However, the definition of mean Ta is still a subject of debate. The most defensible definition might be the integral of the continuous temperature measurements over a day (Td0). However, for technological and historical reasons, mean Ta over land have been taken to be the average of the ...
Thanatophoric dysplasia (TD) is a lethal form of skeletal dysplasia with short-limb dwarfism. Two types distinguished with their radiological characteristics have been defined clinically. The femur is curved in type 1, while it is straight in type 2. TD is known to be due to a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. We report a male patient who showed clinical findings...
Thanatophoric dysplasia (TD) is caused by mutation of the gene that encodes fibroblast growth factor 3 (FGFR3). Owing to the poor prognosis for TD, prenatal diagnosis is critical to optimal perinatal management. We report here a case of TD in twin pregnancy, which was prenatally diagnosed by DNA analysis following amniocentesis at 15 weeks, and was managed by selective fetal termination. Prenat...
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