Early Mandibular Distraction to Relieve Robin Severe Airway Obstruction in Two Siblings with Lymphedema–Distichiasis Syndrome

Abstract

Although micrognathia and cleft palate have been reported in patients with Lymphedema-distichiasis syndrome (LDS), the classic Robin sequence with glossoptosis and airway obstruction has not been previously described in patients with genetically confirmed LDS. Here we report on two female siblings with LDS confirmed by a FOXC2 mutation who presented at birth with severe airway obstruction related to Robin sequence. Respiratory obstruction was successfully managed by early distraction osteogenesis. Our report highlights the unusual occurrence of Robin sequence in LDS patients and advises distraction osteogenesis to resolve breathing problems in LDS patients who present with Robin related severe airway obstruction.

Mandibular Distraction Osteogenesis as a Primary Intervention in Infants With Pierre Robin Sequence

“…That said, the efficacy of distraction is less clear in sPRS patients with more severe syndromes with additional comorbidities such as Smith-Lemli-Optiz or otopalatodigitial syndrome. 13,18,19 Furthermore, there were no statistically significant differences between our 2 cohorts in terms of age at time of distraction, AO, etc (Table 1), factors that may have confounded analysis were controlled for. Results regarding the quantification of mandibular morphology and airway morphological changes, palatoplasty, or other medical comorbidities were beyond the scope of this analysis.…”

“…Nonetheless, surgical success was not statistically different between the 2 groups (for iPRS cohort vs for sPRS cohort, P = 0.0) and demonstrates that although the iPRS group has a higher success rate, the success rate for the sPRS group is still highly acceptable (Table 3). That said, the efficacy of distraction is less clear in sPRS patients with more severe syndromes with additional comorbidities such as Smith-Lemli-Optiz or otopalatodigitial syndrome 13,18,19 …”

“…Pierre Robin sequence patient management is focused on improving functional status associated with airway and feeding. 13 Nonsurgical management involves positioning the patient, nasopharyngeal airway, or nasal continuous positive airway pressure. 6 Surgical management can involve tongue-lip adhesion, tracheostomy, or mandibular distraction osteogenesis (MDO).…”