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Updated: Jul 1, 2025
00:06
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
13.6K
Syndromic Piere Robbin Sequence- A Rare Presentation in Association with Multiple Heart Defects and Type III Stickler
Soubia Akhtar1, Muhammad Wasif1, Yumna Afzal1
1Dr Ziauddin University hospital, Karachi, Pakistan.
Summary
This report details the first known case of a newborn with Pierre Robin Sequence experiencing two simultaneous heart defects: patent ductus arteriosus and patent foramen ovale. This finding highlights potential cardiac complications in infants with this rare congenital disorder.
Area of Science:
- Pediatrics
- Cardiology
- Genetics
Background:
- Pierre Robin Sequence (PRS) is a congenital disorder characterized by micrognathia, glossoptosis, and airway obstruction.
- PRS can occur as an isolated anomaly or be part of a syndrome, such as Stickler Syndrome.
- Congenital heart defects are observed in approximately 20% of children with PRS.
Purpose of the Study:
- To report the first case of a neonate with Pierre Robin Sequence presenting with two specific congenital heart defects.
- To increase awareness of potential cardiac comorbidities in infants diagnosed with PRS.
Main Methods:
- Case report of a one-day-old infant diagnosed with Pierre Robin Sequence.
- Clinical examination and diagnostic procedures to identify congenital anomalies.
Main Results:
- The infant presented with Pierre Robin Sequence and two concurrent heart defects: patent ductus arteriosus and patent foramen ovale.
- This represents the first documented instance of this specific combination of conditions in a PRS patient.
Conclusions:
- The co-occurrence of patent ductus arteriosus and patent foramen ovale in this PRS case is notable.
- This case underscores the importance of thorough cardiac evaluation in infants with Pierre Robin Sequence.
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