Pierre Robin Sequenz: Pränatale Diagnostik und interdisziplinäre Therapie

Abstract

Pierre Robin Sequence (PRS) is characterised by mandibular micrognathia and/or retrognathia, glossoptosis and upper airway obstruction (UAO). In severe cases, UAO and cyanosis occur immediately after birth and endoscopic intubation may become necessary. Therefore, prenatal diagnosis with referral to a specialized department is important. A non-invasive interdisciplinary treatment protocol is presented. The postnatal adjustment of the preepiglottic baton plate (PEBP) as early as possible is essential in this concept. In a randomised cross-over trial with 11 patients with isolated PRS, the PEBP was found to reduce the apnoea index significantly and to be superior to a conventional palatal plate. An uncontrolled longitudinal study indicated that the UAO had normalised 3 months after discharge; all infants showed adequate weight gain with bottle feeding. In a comparative study with 34 healthy children and 34 children with isolated PRS, no significant differences in cognitive outcome was found. Interdisciplinary co-operation between prenatal care, neonatology and orthodontics is a pre-requisite for optimal postnatal therapy. Complications of UAO can be avoided by early and adequate treatment, resulting in good results for feeding, speech and facial profile. Invasive surgical treatment options like tongue-lip-adhesion, mandibular extension or distraction should be obsolete.