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Pierre-Robin syndrome: a case report.

Andreea Chiriac1, Anja Dawson, Martin Krapp

  • 1Department of Obstetrics and Prenatal Medicine, University Clinic of Obstetrics and Gynecology, University Hospital Lübeck, Ratzeburger Allee 160, Lübeck, Germany. chiriandra@yahoo.com

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Summary

A fetus diagnosed with micro-retrognathism via ultrasound in the 22nd week of gestation later received a postnatal diagnosis of Pierre-Robin syndrome. This case reviews differential diagnoses and complications of retrognathism.

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Area of Science:

  • Medical Genetics
  • Prenatal Diagnosis
  • Pediatric Surgery

Background:

  • Pierre Robin sequence is a congenital anomaly characterized by micrognathia, glossoptosis, and airway obstruction.
  • Early diagnosis and management are crucial for preventing complications such as feeding difficulties and respiratory distress.

Observation:

  • A case report detailing a fetus diagnosed with micro-retrognathism during a routine 22-week ultrasound examination.
  • Postnatal confirmation of Pierre Robin syndrome in the diagnosed infant.

Findings:

  • The study highlights the importance of prenatal ultrasound in identifying potential cases of micro-retrognathism.
  • Discussion of differential diagnoses for fetal micro-retrognathism and associated conditions.

Implications:

  • Improved prenatal detection of Pierre Robin syndrome can facilitate timely intervention and management strategies.
  • Understanding the spectrum of retrognathism and its complications aids in comprehensive patient care.
  • This case underscores the need for a multidisciplinary approach in managing infants with Pierre Robin sequence.