Mortality in Robin sequence: identification of risk factors.

Although Robin sequence (RS) is a well-known phenomenon, it is still associated with considerable morbidity and even mortality. The purposes of this study were to gain greater insight into the mortality rate and identify risk factors associated with mortality in RS. We retrospectively reviewed all RS infants followed at the Wilhelmina Children's Hospital from 1995 to 2016. Outcome measurements were death and causes of death. The authors identified 103 consecutive RS infants with a median follow-up of 8.6 years (range 0.1-21.9 years). Ten of the 103 infants (10%) died at a median age of 0.8 years (range 0.1-5.9 years). Nine of these ten infants (90%) were diagnosed with an associated syndrome. Of these, seven infants died of respiratory insufficiency due to various causes (two related to upper airway obstruction). The other two syndromic RS infants died of arrhythmia due to hypernatremia and of West syndrome with status epilepticus. One isolated RS infant died of brain ischemia after MDO surgery. Cardiac anomalies were observed in 41% and neurological anomalies in 36%. The presence of a neurological anomaly was associated with a mortality rate of 40% versus 7% in infants with no neurological anomaly (p = 0.016), with an odds ratio of 8.3 (95% CI 1.4-49.0) for neurological anomaly versus no neurological anomaly. Mortality was 15% in infants with syndromic RS versus 2% in infants with isolated RS (p = 0.044). Mortality was not significantly associated with the presence of a cardiac anomaly, surgical treatment for severe respiratory distress in the neonatal period, or prematurity. CONCLUSION: RS represents a heterogeneous patient population and is associated with a high level of underlying syndromes. The present study reports a mortality rate of 10% significantly associated with syndromic RS and the presence of neurological anomalies. A multidisciplinary approach in all infants born with RS, including genetic testing and examination of neurological anomalies in a standardized way, is crucial to identify infants with underlying syndromes potentially associated with increased mortality. What is Known: • Reported mortality rates in Robin sequence vary from 2% to 26%. • Clinicians mainly focus on the morbidity of Robin sequence that includes respiratory complications due to upper airway obstruction in the period after birth. • Robin sequence represents a heterogeneous patient population and is associated with a high level of underlying syndromes. What is New: • The present study reports a mortality rate of 10% significantly associated with syndromic Robin sequence and the presence of neurological anomalies. • A multidisciplinary approach in all infants born with Robin sequence, including genetic evaluation and standardized workup for neurological anomalies, is crucial to identify infants with underlying syndromes potentially associated with increased mortality.

Postoperative respiratory difficulties following primary cleft palate repair in infants with Robin sequence versus isolated cleft palate: A retrospective study.

The study aimed to: (1) compare the occurrence of postoperative respiratory difficulties (PRD) following primary cleft palate repair (CPR) in infants with an isolated cleft palate (iCP) and infants with Robin sequence (RS), and (2) describe the possible benefit of preoperative analysis with palatal plate in infants with RS. All consecutive infants with an iCP and infants with RS who underwent CPR between January 2009 and June 2022 in the Wilhelmina Children's Hospital were retrospectively reviewed. A total of 127 infants were included of which 74 infants with an iCP and 53 infants with RS. The group of infants with RS consisted of 35 infants with non-isolated RS (niRS) and 18 infants with isolated RS (iRS). Significant more PRD were seen in infants with RS compared to infants with an iCP (14/53 versus 9/74; p = 0.04). Especially infants with niRS have a significant higher risk of developing PRD in comparison with infants with an iCP (OR = 4.16, 95% CI [1.17-15.99], p = 0.031). The preoperative palatal plate screening in infants with RS (n = 25) did not show abnormalities and had no effect on the perioperative policy. Within the limitations of this study it seems that infants with niRS are more prone to develop PRD following primary CPR when compared to infants with iRS or an iCP. No clear benefit was found in postponing surgery until 12 months or later in infants with RS to avoid PRD. The preoperative palatal plate screening did not demonstrate signs of UAO in infants with RS that developed PRD. These findings suggest that preoperative analysis with palatal plate has a low predictive value.

[A neonate with an inspiratory wheeze]. / Een zuigeling met een inspiratoire stridor.

An 8-month-old boy with a medical history of prematurity and intubation presented with a severe inspiratory wheeze, caused by subglottic cysts.