Birth prevalence and initial treatment of Robin sequence in Germany: a prospective epidemiologic study

作者：Vatlach Scarlet; Maas Christoph; Poets Christian F^*

来源：Orphanet Journal of Rare Diseases, 2014, 9(1): 9.

DOI：10.1186/1750-1172-9-9

• Obstructive sleep apnea
• Upper airway obstruction
• Retrognathia
• Preepiglottic baton plate

Background: We conducted a monthly epidemiological survey to determine the birth prevalence of Robin sequence (RS) and the use of various therapeutic approaches for it.
Methods: Between August 2011 and July 2012, every pediatric department in Germany was asked to report new admissions of infants with RS to the Surveillance Unit for Rare Pediatric Diseases in Germany. RS was defined as retro-or micrognathia and at least one of the following: clinically evident upper airway obstruction including recessions, snoring or hypoxemia; glossoptosis; feeding difficulties; failure to thrive; cleft palate or RS-associated syndrome. Hospitals reporting a case were asked to return an anonymized questionnaire and discharge letter.
Results: Of 96 cases reported, we received detailed information on 91. Of these, 82 were included; seven were duplicates and two erroneous reports. Given 662,712 live births in Germany in 2011, the birth prevalence was 12.4 per 100,000 live births. Therapeutic approaches applied included prone positioning in 50 infants, followed by functional therapy in 47. Conventional feeding plates were used in 34 infants and the preepiglottic baton plate (PEBP) in 19. Surgical therapy such as mandibular traction was applied in 2 infants, tracheotomy in 3.
Conclusion: Compared to other cohort studies on RS, surgical procedures were relatively rarely used as an initial therapy for RS in Germany. This may be due to differences in phenotype or an underrecognition of upper airway obstruction in these infants.

• 出版日期2014-1-17