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Pierre Robin and what else?

May 15, 2012 7:03 am

In a large pediatric center, patients with Pierre Robin Sequence (PRS) are routinely seen by genetics and for good reason.  Underlying syndromic features were present in 60% of a recent retrospective review (J Pediatr 2012; 160: 645-50).

Most common syndromes with PRS include the following:

• Stickler syndrome (22% pf all cases)
• 22q11.2 deletion syndrome/velocardiofacial syndrome
• Marshall syndrome
• Moebious syndrome
• Cornelia de Lange syndrome
• Treacher Collins syndrome
• Fetal alcohol syndrome
• Van der Woude syndrome
• Oculo-auricular-vertebral spectrum

For gastroenterologists, the article notes that 43% of the San Diego cohort required tube feeding whereas 79% of the Cleveland cohort needed tube feedings.  Overall, average was 52% needing tube feeds.

Additional references:

• -J Pediatr 2011; 159: 887.  Feeding problems common in UAO/Robin-like phenotype.
• -Burstein FD, Williams JK.  Mandibular distraction. Plast Reconstr Surg 2005; 115: 61-7.
• www.vcfsef.org
• www.sticklers.org
• -J Pediatr 2002; 140: 719.  Frequent upper esophageal/oral motor dysfxn (24/28)
• -J Pediatr 2001; 139: 588. n=117.  descriptive study.  35% c syndrome, 48% isolated, 17% c associated anomalies.
• -JPGN 2001; 32: 297.  Frequent oroesophageal motor disorders in these patients.  86% required prolonged NG feeds.

Posted by gutsandgrowth

Categories: Pediatric Gastroenterology Intestinal Disorder, Pediatrics

Tags: 22q deletion, Pierre Robin sequence, Stickler syndrome, tube feeding

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