Thanatophoric Dysplasia

Badal, Sachendra; Singh, Daljit

doi:10.3126/jnps.v35i3.11946

Cited by 2 publications

(5 citation statements)

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“…1 Both types share a set of features, including short ribs, a narrow bell-shaped thorax, relative macrocephaly, specific facial traits, short fingers and toes, hypotonia, and redundant skin folds on the limbs. 3 Most of the fetuses with TD die in utero. Respiratory insufficiency, primarily attributed to the constrained chest cavity and underdeveloped lungs, as well as the brainstem compression resulting from a narrow foramen magnum or a combination thereof, is the primary underlying cause of mortality in both types of this condition.…”

Section: Discussionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

“…Antenatal ultrasonography in the second trimester aids in diagnosis and also helps to differentiate it from other non-lethal dysplasias. 3 Scans done in the third-trimester help to distinguish between the types based on fetal skeletal morphology. Diagnosis can be further confirmed with autopsy and histopathological examination.…”

Section: Discussionmentioning

confidence: 99%

Case Report: Thanatophoric dysplasia

Poudel,

Upreti,

Pantha

2023

F1000Res

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“…Type II TD is characterized by micromelia with straight femurs and the uniform presence of moderate and severe craniosynostosis with cloverleaf-like skull deformation due to premature closure of the coronal and lambda-like sutures [4,7,13,17,18,19,20].…”

Section: Introductionmentioning

confidence: 99%

“…The gold standard for prenatal verification of TD, as for most skeletal dysplasias, is currently molecular genetics. The material can be obtained by amniocentesis, which is usually performed at 15-18 weeks of pregnancy, or by chorionic biopsy (approximately at 10-12 weeks of pregnancy) [18]. Moreover, the molecular genetic method can be the only criterion when it comes to termination of pregnancy or when there is no possibility to conduct a pathomorphological examination [11,18].…”

Section: Introductionmentioning

confidence: 99%

“…The differential diagnosis of TD should include imperfect osteogenesis type II, characterized by fractures of long bones, and achondrogenesis, characterized by extreme hypomineralization but without the classic multiple skin folds [8,18,29]. The differential diagnosis also includes Ellis-Van Creveld syndrome (chondroectodermal dysplasia), asphyxial thoracic dysplasia, chondrodysplasia syndrome with polydactyly, severe hypophosphatasia, and homozygous achondroplasia [19,31].…”

Section: Introductionmentioning

confidence: 99%

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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

Cited by 2 publications

References 4 publications

Case Report: Thanatophoric dysplasia

Case Report: Thanatophoric dysplasia

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

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