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

Orphanet Journal of Rare Diseases

Christian F Poets¹  Christoph Maas¹  Scarlet Vatlach¹ 

[1] Department of Neonatology, Tuebingen University Hospital, Calwerstr 7, Tuebingen 72076, Germany

关键词: Preepiglottic baton plate;    Retrognathia;    Upper airway obstruction;    Obstructive sleep apnea;   

Others  :  863306
DOI  :  10.1186/1750-1172-9-9

 received in 2013-10-19, accepted in 2014-01-12,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Vatlach et al.; licensee BioMed Central Ltd.

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