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Background Infants with Robin sequence (RS) suffer from upper airway obstruction (UAO) and feeding problems. We developed an oral appliance with a velar extension in combination with functional treatment and appropriate feeding techniques, which was proven effective in isolated RS. As the above problems are particularly challenging in syndromic RS, we set out to evaluate our treatment concept also in these patients. Methods We searched our electronic departmental database to identify all children admitted to our department between 01/01/2003 and 31/12/2009 because of syndromic RS. UAO was quantified by cardiorespiratory sleep studies performed before and during treatment with a modified palatal plate. This appliance consists of a palatal part, covering the hard palate as well as the alveolar ridges and the potential cleft, and a velar extension shifting the tongue in a more anterior position, thereby opening the pharyngeal airway. It is adjusted by fiberoptic nasopharyngoscopy and controlled by cardiorespiratory sleep studies. Obstructive sleep apnea was defined as a mixed obstructive sleep apnea index (MOAI) >3/h. Feeding modalities before and after treatment and weight gain, determined as standard deviation score, were also evaluated. Results Of 68 children meeting inclusion criteria, 56 completed treatment (46 of these being infants). Underlying diagnoses included craniofacial dysostosis (N = 13) and synostosis syndromes (N = 5), unspecified dysmorphic syndromes (N = 23) and miscellaneous rare conditions (N = 27). Median MOAI decreased from 8.5 (range 0.3–76.0) at admission to 1.1 (0.0–5.2) at discharge (p

Objective A new oral appliance to treat obstructive sleep apnea in infants with Pierre Robin sequence has recently been shown to be superior to a sham procedure. We now investigate safety and long-term effects of this appliance on obstructive sleep apnea in infants with Pierre Robin sequence. Design Case series with repetitive follow-up examinations. Setting Tertiary neonatal intensive care unit at the University Children's Hospital Tuebingen, Germany. Patients Fifteen infants (11 girls and four boys; median age, 5 days) with Pierre Robin sequence and obstructive sleep apnea (i.e., mixed-obstructive-apnea index > 3). Intervention A custom-made intraoral appliance with velar extension was used continuously in situ from admission until 3 months after hospital discharge. Main Outcome Measure The mixed-obstructive-apnea index was determined prior to the intervention at admission, at discharge, and 3 months later using polygraphic sleep studies. The geometric mean of the mixed-obstructive-apnea index and its 95% confidence interval were calculated. Results Compared with admission (mean, 17.2; 95% confidence interval, 11.1–26.7), there was a significant decrease in the mixed-obstructive-apnea index to discharge (mean, 3.8; 95% confidence interval, 2.2–6.6) and 3 months later (mean, 1.2; 95% confidence interval, 0.7–2.2; p value < .001). No severe adverse events occurred. Conclusions This oral appliance was safe and appears to treat obstructive sleep apnea effectively in infants with Pierre Robin sequence.

Objective To test the hypothesis that a new orthodontic appliance with a velar extension that shifts the tongue anteriorly would reduce upper airway obstruction in infants with Pierre Robin sequence (PRS). Study design Eleven infants with PRS (median age, 3 days) and an apnea index (AI) >3 were studied. The effect of the new appliance on the AI was compared with that of a conventional appliance without a velar extension by using a crossover study design with random allocation. Results Compared with baseline (mean AI, 13.8), there was a significant decrease in the AI with the new appliance (3.9; P value P = .842). Thus, the relative change in AI was −71% (95% CI, −84-−49) for the new appliance and +8% (95% CI, −52-142) for the conventional appliance, which was significantly different ( P = .004). No severe adverse effects were observed. Conclusion This new orthodontic appliance appears to be safe and effective in reducing upper airway obstruction in infants with PRS.

Precalcaneal congenital fibrolipomatous hamartoma is a rare minor malformation previously reported only as sporadic. We report this finding in three family members from two generations, suggesting autosomal dominant inheritance.