Thanatophoric dysplasia- a case report

Jagun, Olusoji Edward; Olusola-Bello, Mojisola Adejoke; Adekanmbi, AF; Jagun, Omodele O.; Oduwole, Tolani

doi:10.11604/pamj.2020.37.220.21211

Cited by 3 publications

(14 citation statements)

References 5 publications

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“…FGFR3's function is to regulate proliferation, differentiation, and development of cells in the bone and brain 7,9 . A mutation in the FGFR3 gene causes the proliferation of chondrocytes to become affected and leads to abnormal long bone development through the disruption of longitudinal growth 7,8 . Anteroposterior chest radiograph demonstrating skeletal dysplasia with short ribs, rhizomelic shortening of his extremities, and diffuse platyspondyly.…”

Section: Discussionmentioning

confidence: 99%

“…FGFR3’s function is to regulate proliferation, differentiation, and development of cells in the bone and brain 7,9 . A mutation in the FGFR3 gene causes the proliferation of chondrocytes to become affected and leads to abnormal long bone development through the disruption of longitudinal growth 7,8 .…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, the differentiation of TD from other skeletal dysplasias, such as achondroplasia, from imaging alone can be challenging 7 . Micromelia, the appearance of the skull, shortened long bones, and the spinal abnormalities display similarities between the 2 1,7 . Because of these similarities, molecular analysis can be a useful tool to confirm or differentiate the diagnosis of TD.…”

Section: Discussionmentioning

confidence: 99%

“…Several different skeletal dysplasias have their orthopaedic manifestations secondary to a mutation in the FGFR3 gene. This is a membrane-bound receptor protein consisting of 3 domains: extracellular immunoglobin-like, transmembrane, and intracellular tyrosine kinase (TK) 7 . Fibroblast growth factors will bind to the extracellular domain causing a dimerization and activation of TK propagating a signal transduction pathway that regulates endochondral ossification 7,8 .…”

Section: Discussionmentioning

confidence: 99%

“…This is a membrane-bound receptor protein consisting of 3 domains: extracellular immunoglobin-like, transmembrane, and intracellular tyrosine kinase (TK) 7 . Fibroblast growth factors will bind to the extracellular domain causing a dimerization and activation of TK propagating a signal transduction pathway that regulates endochondral ossification 7,8 . FGFR3’s function is to regulate proliferation, differentiation, and development of cells in the bone and brain 7,9 .…”

Section: Discussionmentioning

confidence: 99%

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Orthopaedic Manifestations of Thanatophoric Dwarfism

DeGenova,

Wing,

Perugini

et al. 2023

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Case: We report the rare case of a 3-year-old male patient with thanatophoric dwarfism, a fatal skeletal dysplasia that arises from an autosomal dominant mutation in the fibroblast growth factor receptor 3 gene. The role of the orthopaedic surgeon in the in the management of this disease is discussed. Conclusion: We advocate for the close monitoring of disease progression by the orthopaedic surgery team and offer a potential surgical intervention that may help prevent cardiorespiratory demise.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Orthopaedic Manifestations of Thanatophoric Dwarfism

DeGenova,

Wing,

Perugini

et al. 2023

JBJS Case Connector

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Case Report: Thanatophoric dysplasia

Poudel,

Upreti,

Pantha

2023

F1000Res

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Thanatophoric dysplasia (TD) is a rare and lethal skeletal dysplasia caused by a de novo mutation in the fibroblast growth factor receptor 3 gene (FGFR3), with a frequency range of 1 in 20,000 to 50,000. We report a case of a 19-year-old primigravida from rural Nepal who presented with ultrasonographic findings suggestive of TD at 26 weeks and three days of gestation. The pregnancy was terminated due to the lethal nature of the condition. Accurate prenatal diagnosis and comprehensive counselling are paramount for families affected by this condition. This case has been reported due to its rarity, with the aim of raising awareness among healthcare professionals about this devastating condition.

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Thanatophoric Dysplasia: Literature Review and Clinical Case in Monochoric Diamniotic Twins

Lastivka,

Babintseva,

Antsupova

et al. 2023

Neonatol. hìr. perinat. med.

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Thanatophoric dysplasia, TD (OMIM: 187600, 87601) belongs to the group of FGFR3 chondrodysplasias and is divided intotypes I and II. The incidence of TD is approximately 1:20,000-50,000 newborns. TD is usually caused by pathogenic variantsin the FGFR3 gene, which provides instructions for making a protein involved in the development and maintenance of bone andbrain tissue. Mutations in the gene result in excessive protein activity. TD is inherited as an autosomal dominant trait, althoughcases of autosomal recessive inheritance have been described.According to the radiologic changes of the bones and skull, there are 2 clinical types of TD: type I (TD1, MIM 187600) andtype II (TD2, MIM 187601) with some overlap between them. Type I TD is characterized by micromelia with curved femurs,marked platyspondylia with or without a cloverleaf skull. TD type II is characterized by micromelia with straight femurs andthe uniform presence of moderate to severe craniosynostosis with a leaf-shaped skull deformity due to premature closure of the coronal and lambdoid sutures..The diagnosis of TD is made syndromologically and/or radiologically and/or by detection of a heterozygous pathogenicFGFR3 variant identifi ed by molecular genetic testing.The article presents a rare clinical case of TD in monochorionic dizygotic twins with a fatal outcome. During prenatalultrasound examination at 26-27 and 35-36 weeks of gestation, signs of skeletal dysplasia were diagnosed in both fetuses against the background of pronounced polyhydramnios. It should be noted that the father of the children is over 60 years old.The diagnosis of both children was made syndromologically and radiologically based on the detection of phenotypic signs of TD(predominance of the skull over the face, short upper and lower limbs, altered shape of the chest, infl amed nasal bridge) and radiological signs of TD (short ribs, narrow chest, relative macrocephaly, micromelia of all limbs). Genetic testing for TD was not performed.The clinical case was published with the consent of the parents in accordance with the principles of bioethics.

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Thanatophoric dysplasia- a case report

Cited by 3 publications

References 5 publications

Orthopaedic Manifestations of Thanatophoric Dwarfism

Orthopaedic Manifestations of Thanatophoric Dwarfism

Case Report: Thanatophoric dysplasia

Thanatophoric Dysplasia: Literature Review and Clinical Case in Monochoric Diamniotic Twins

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