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Related Concept Videos

Teratogenicity01:07

Teratogenicity

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The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
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Related Experiment Video

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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

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Thanatophoric Dysplasia: A Case Report.

Manisha Sharma1, Jyoti2, Rekha Jain3

  • 1Senior Specialist, Department of Obstetrics and Gynaecology, Hindu Rao Hospital and NDMC Medical College , NDMC, Delhi, India .

Journal of Clinical and Diagnostic Research : JCDR
|December 18, 2015
PubMed
Summary

Thanatophoric Dysplasia (TD), a lethal skeletal disorder caused by FGFR3 gene mutations, presents at birth with severe skeletal abnormalities. This case highlights the diagnosis of TD type I in a stillborn infant, emphasizing the importance of prenatal ultrasound.

Keywords:
CongenitalMicromeliaPlatyspondylySkeletal dysplasia

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Area of Science:

  • Medical Genetics
  • Skeletal Dysplasias
  • Prenatal Diagnosis

Background:

  • Thanatophoric Dysplasia (TD) is a severe, lethal skeletal dysplasia resulting from mutations in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene.
  • It is characterized by micromelia, a narrow thorax, platyspondyly, and macrocephaly, with two main subtypes (I and II).
  • Early diagnosis via second-trimester ultrasound is crucial for managing this rare congenital anomaly.

Observation:

  • A preterm stillborn infant presented with dysmorphic facies, macrocephaly, micromelia, short fingers, deep skin creases, narrow thorax, and a protuberant abdomen.
  • Ultrasound revealed significant long bone shortening, with femurs exhibiting a characteristic 'telephone receiver' shape.
  • The combination of facial and skeletal abnormalities strongly suggested Thanatophoric Dysplasia type I.

Findings:

  • The case confirms the diagnostic utility of ultrasound in identifying Thanatophoric Dysplasia, particularly the characteristic femur morphology in type I.
  • The presented features align with the clinical definition of Thanatophoric Dysplasia type I.
  • This report adds to the literature on the rarity and clinical presentation of TD.

Implications:

  • Accurate prenatal diagnosis of Thanatophoric Dysplasia allows for appropriate genetic counseling and family planning.
  • Understanding the specific subtypes and their differentiating features aids in clinical management and prognosis.
  • Further research into FGFR3-related skeletal dysplasias can improve diagnostic accuracy and potential therapeutic strategies.