Thanatophoric dysplasia: a case report at Federal Medical Centre Yenagoa, Bayelsa state Nigeria
International Journal of Contemporary Pediatrics, 2022 Thanatophoric dysplasia is a rare congenital severe skeletal disorder previously considered lethal but some survivals beyond the neonatal period have been reported due to extensive medical interventions.
Okemena O. Onotume +5 more
semanticscholar +1 more source
Nhân một trường hợp lâm sàng hiếm gặp nghi Thanatophoric dysplasia
Pham Ngoc Thach Journal of Medicine and Pharmacy, 2022 Loạn sản xương gây tử vong - Thanatophoric dysplasia là một rối loạn hệ xương bẩm sinh nặng, tương đối hiếm gặp, gây ra bởi sự đột biến mới của gen FGFR3 (fibroblastgrowthfactorreceptor-3) nằm trên nhiễm sắc thể 4.
Thanh Phạm Hoàng Thiên +1 more
semanticscholar +1 more source
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
Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta [PDF]
, 2016 Prompt and accurate diagnosis of skeletal dysplasias can play a crucial role in ensuring appropriate counseling and management (both antenatal and postnatal).
Bonafe +10 more
core +1 more source
A case of recurrent thanatophoric dwarfism [PDF]
, 2021 An interesting case of Recurrent Thanatophoric Dwarfism in a Multigravida; reporting to this hospital in second trimester which was terminated. It was confirmed on anomalies scan and was lethal.
Devi, L. Thulasi, S., Athul R.
core +2 more sources
Fibroblast growth factor signaling in skeletal development and disease [PDF]
, 2015 Fibroblast growth factor (FGF) signaling pathways are essential regulators of vertebrate skeletal development. FGF signaling regulates development of the limb bud and formation of the mesenchymal condensation and has key roles in regulating ...
Marie, Pierre J, Ornitz, David M
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Indian Journal of Pathology and Microbiology, 2021 Thanatophoric dysplasia type 1 (TD1) is a lethal form of osteochondral dysplasia due to mutation of FGFR3 gene. In addition to severe shortening of the limbs there is temporo-occipital lobe dysplasia along with a range of other CNS anomalies.
Akash Mondal +4 more
semanticscholar +1 more source
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management. [PDF]
, 2018 Purpose Unexpected fetal abnormalities occur in 2-5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, and
A David +34 more
core +2 more sources
Thanatophoric dysplasia: Antenatal to postmortem
Journal of the Scientific Society, 2015 Thanatophoric dwarfism (TD), literally meaning death seeking dwarf, is the most common form of lethal bone dysplasia characterized by severe micromelia, extra folds of skin and narrow chest.
Chanabasappa V Chavadi +4 more
doaj +1 more source
A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]
, 2012 Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James +4 more
core +3 more sources