Acta Med. 2020, 63: 86-90

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

Girish Gulab Meshrama, Neeraj Kaurb, Kanwaljeet Singh Hurac

aDepartment of Pharmacology, Atal Bihari Vajpayee Institute of Medical Sciences and Research and Dr. Ram Manohar Lohia Hospital, New Delhi, India
bDepartment of Radiology, The University of Texas Health Science Centre, San Antonio, Texas, USA
cDepartment of Paediatrics, Richmond University Medical Centre, Staten Island, New York, USA

Received June 10, 2019
Accepted February 7, 2020

Pierre Robin sequence (PRS) is characterized by the triad of retrognathia, glossoptosis, and airway obstruction. PRS may occur in isolation or in conjunction with other syndromes. Distinguishing isolated and syndromic forms of PRS helps clinicians decide the management plan. We describe two cases of PRS of Indian ethnicity and describe some of the difficulties that we faced while distinguishing isolated PRS from syndromic PRS. Both cases had a similar clinical presentation. However, one of the cases had a positive family history of congenital deafness and cleft palate, whereas the other case had apparent upper limb anomalies. These facts heightened the suspicion of an associated syndrome. However, based on the available facts and after thorough investigations, a tentative diagnosis of isolated PRS was made for both the patients. Both the cases were managed conservatively and were advised a long-term follow-up. When the associated anomalies are few, minor or concealed at birth, longitudinal follow-up of all PRS cases combined with thorough diagnostics including chromosomal analysis could help differentiate syndromic PRS from isolated PRS. Regardless, all cases of PRS require a multidisciplinary approach.


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