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Updated: Jul 1, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
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.
Abstract:
Pierre Robin Sequence (PRS), a rare congenital disorder, is a triad of micrognathia, glossoptosis, and tongue based airway obstruction (TBSO). It may occur as isolated anomaly (iPRS) or as a part of a syndrome (sPRS), like that seen in association with Stickler Syndrome. Approximately 20% of children with PRS have congenital heart diseases. To the best of our knowledge this case of a one-day old infant is the first one to be reported as having two heart defects; patent ductus arteriosus and patent foramen ovale in Pierre Robbin Sequence child.
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