Jeune syndrome: Asphyxiating thoracic dystrophy and its genetic diagnosis – A rare case report

Authors

  • Abhishek K Phadke
  • Ali Kumble
  • Shakib Shafi

DOI:

https://doi.org/10.32677/IJCH.2020.v07.i08.007

Keywords:

Asphyxiating thoracic dystrophy, DYNC2H1 gene, Genetic counseling, Jeune syndrome, Skeletal dysplasia

Abstract

Jeune syndrome, also known as asphyxiating thoracic dystrophy, is a rare multisystem potentially lethal skeletal dysplasia. It has an estimated incidence of 1/100,000–130,000 live births. A term outborn female neonate born by vaginal delivery to a primigravida mother, presented to our neonatal intensive care unit with severe respiratory distress since birth. The baby was noticed to have multiple characteristic skeletal anomalies including small bell-shaped thorax and short limbs leading to the clinical diagnosis of Jeune syndrome. Whole genome sequencing was done which confirmed the diagnosis. A correct clinical and genetic diagnosis in index cases of Jeune syndrome should be established to facilitate prenatal diagnosis and genetic counseling.

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Published

2020-08-24

Issue

Section

Case Reports

How to Cite

Jeune syndrome: Asphyxiating thoracic dystrophy and its genetic diagnosis – A rare case report. (2020). Indian Journal of Child Health, 7(8), 346-348. https://doi.org/10.32677/IJCH.2020.v07.i08.007

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