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Pierre Robin Sequence: Diagnostic Difficulties Faced while Differentiating Isolated and Syndromic Forms.

Girish Gulab Meshram1, Neeraj Kaur2, Kanwaljeet Singh Hura3

  • 1Department of Pharmacology, Atal Bihari Vajpayee Institute of Medical Sciences and Research and Dr. Ram Manohar Lohia Hospital, New Delhi, India. drgirish23@yahoo.co.in.

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Summary
This summary is machine-generated.

Pierre Robin sequence (PRS) diagnosis can be challenging, especially differentiating isolated from syndromic forms. Thorough diagnostics and long-term follow-up are crucial for accurate management of PRS cases.

Keywords:
Pierre Robin syndromeamniotic band syndromelimb deformitiesretrognathia

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Area of Science:

  • Medical Genetics
  • Pediatric Medicine
  • Craniofacial Anomalies

Background:

  • Pierre Robin sequence (PRS) presents with retrognathia, glossoptosis, and airway obstruction.
  • PRS can occur independently or as part of a broader genetic syndrome.
  • Accurate differentiation between isolated and syndromic PRS is vital for appropriate clinical management.

Observation:

  • Two cases of PRS in Indian ethnicity are presented with similar initial clinical presentations.
  • One case had a family history of congenital deafness and cleft palate, while the other showed upper limb anomalies.
  • These features raised suspicion for syndromic PRS, complicating initial diagnosis.

Findings:

  • Despite suggestive features, thorough investigations led to a tentative diagnosis of isolated PRS for both patients.
  • Both cases were managed conservatively with recommendations for long-term follow-up.
  • The study highlights diagnostic challenges when associated anomalies are subtle or not immediately apparent.

Implications:

  • Longitudinal follow-up and comprehensive diagnostics, including chromosomal analysis, are essential for distinguishing syndromic from isolated PRS.
  • A multidisciplinary approach is fundamental for managing all cases of Pierre Robin sequence.
  • Early and accurate diagnosis impacts treatment strategies and patient outcomes in PRS.