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

Girish Gulab Meshram,Kanwaljeet Singh Hura,Neeraj Kaur

doi:10.14712/18059694.2020.23

Abstract

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.

Highlights

CASE PRESENTATIONPierre Robin sequence (PRS) is the triad of retrognathia, glossoptosis, and airway obstruction
We describe two cases of PRS of Indian ethnicity and describe some of the difficulties that we faced while differentiating syndromic PRS from non-syndromic PRS
As Case 1 had a family history of congenital hearing loss and the presence of sensorineural hearing loss was not completely ruled out due to the impending auditory brainstem response test (ABR), we considered PRS associated with Stickler syndrome or velocardiofacial syndrome in our differential diagnosis

Summary

INTRODUCTION

Pierre Robin sequence (PRS) is the triad of retrognathia, glossoptosis, and airway obstruction. Case 2 was born to a primigravida via normal vaginal delivery at 40 weeks of gestation with a birth weight of 3.6 kg (appropriate for gestational age), but the pregnancy was complicated with preeclampsia, which was managed with magnesium sulfate The parents of both patients had a non-consanguineous marriage. For Case 2 we advised detection of mutations in SF3B4 and TCOF1 genes via polymerase chain reaction to rule out an association with acrofacial dysostosis syndrome and Treacher-Collins syndrome, respectively Both ABR and molecular tests were declined by the patient’s families due to their financial limitations. As Case 1 had a family history of congenital hearing loss and the presence of sensorineural hearing loss was not completely ruled out due to the impending ABR, we considered PRS associated with Stickler syndrome or velocardiofacial syndrome in our differential diagnosis. A written informed consent was obtained from the legally authorized representatives of both patients for anonymized patient information to be published in this case report

Findings

DISCUSSION

CONCLUSIONS