The Clinical Utility of Whole-Exome Sequencing in the Prenatal Diagnosis of Fetal Skeletal Dysplasia. [PDF]
Int J Womens HealthYan Mei,1,* Jingjing Li,1 Lijuan Zhang,1 Xiaoni Wei,2 Qunxiang Xu,1,* Chunhua Shen,1 Yanfeng Qin,1 Qingyan Zhong,3 Yanyan Li1 1Department of Obstetric, Liuzhou Maternal and Child Care Service Centre, Liuzhou, People’s Republic of China ...
Mei Y +8 more
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Growth and development in thanatophoric dysplasia - an update 25 years later. [PDF]
Clin Case Rep, 2013 Nikkel SM, Major N, King WJ.
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Pathways to enhancing prenatal diagnosis of skeletal dysplasias. [PDF]
Pregnancy (Hoboken)Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Wang MJ +4 more
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Variable Antenatal Sonographic Findings of Thanatophoric Dysplasia- A Case Series [PDF]
Journal of Clinical and Diagnostic Research, 2020 Thanatophoric dysplasia is a lethal osteochondral dysplasia which occurs sporadically in 1/64,000-100,000 total live births and it is very common of the congenital lethal skeletal dysplasias.
Richa Verma, Navneet Sharma
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Prenatal Diagnosis of Skeletal Dysplasia and Review of the Literature
Case Reports in Obstetrics and Gynecology, 2021 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
Bashiru Babatunde Jimah +6 more
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Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2022 Skeletal dysplasia is a diverse group of disorders that affect bone development and morphology. Currently, approximately 461 different genetic skeletal disorders have been identified, with over 430 causative genes.
Hwa Young Kim, Jung Min Ko
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National survey of prevalence and prognosis of thanatophoric dysplasia in Japan. [PDF]
Pediatr Int, 2019 Background Thanatophoric dysplasia (TD) is a rare congenital disease of the skeletal system, with an incidence of 1.68-8.3 per 100 000 births, but statistical data on the estimated number of TD patients across Japan are not available.
Sawai H +6 more
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Thanatophoric dysplasia type 1 as seen in a tertiary institution in South-East Nigeria: A case report [PDF]
, 2020 Thanatophoric dysplasia is a lethal form of skeletal dysplasia seen in neonates. The word ‘thanatophoric’ is derived from the Greek word thanatophorus meaning death bringing.
Ogbonna-Nwosu, C. +3 more
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Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. [PDF]
Prenat Diagn, 2013 To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in
Chitty LS +5 more
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Neonatal osteosclerotic bone dysplasia (Raine syndrome)
Indian Pediatrics Case Reports, 2021 Background: Raine syndrome is a rare autosomal recessive neonatal osteosclerotic bone dysplasia caused due to mutations in the FAM20C gene. It has an early and aggressive onset which often results in death in the first few weeks of life, although there ...
Tarun Kumar Girigiri +3 more
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