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.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.