Best practices for the diagnosis and evaluation of infants with robin sequence:a clinical consensus report

Importance: Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper airway obstruction. Currently, no consensus exists regarding the diagnosis and evaluation of children with RS. An international, multidisciplinary consensus group was formed to begin to overcome this limitation. Objective: To report a consensus-derived set of best practices for the diagnosis and evaluation of infants with RS as a starting point for defining standards and management. Evidence Review: Based on a literature review and expert opinion, a clinical consensus report was generated. Findings: Because RS can occur as an isolated condition or as part of a syndrome or multiple-anomaly disorder, the diagnostic process for each newborn may differ. Micrognathia is hypothesized as the initiating event, but the diagnosis of micrognathia is subjective. Glossoptosis and upper airway compromise complete the primary characteristics of RS. It can be difficult to judge the severity of tongue base airway obstruction, and the possibility of multilevel obstruction exists. The initial assessment of the clinical features and severity of respiratory distress is important and has practical implications. Signs of upper airway obstruction can be intermittent and are more likely to be present when the infant is asleep. Therefore, sleep studies are recommended. Feeding problems are common and may be exacerbated by the presence of a cleft palate. The clinical features and their severity can vary widely and ultimately dictate the required investigations and treatments. Conclusions and Relevance: Agreed-on recommendations for the initial evaluation of RS and clinical descriptors are provided in this consensus report. Researchers and clinicians will ideally use uniform definitions and comparable assessments. Prospective studies and the standard application of validated assessments are needed to build an evidence base guiding standards of care for infants and children with RS

Prevalence and patterns of permanent tooth agenesis in patients with nonsyndromic Pierre Robin sequence

Individuals with Pierre Robin sequence (PRS) frequently have tooth agenesis, especially in the mandible. The aims of this study were to characterize permanent tooth agenesis patterns and to determine their prevalence in patients with nonsyndromic PRS

A Retrospective Longitudinal Treatment Review of Multidisciplinary Interventions in Nonsyndromic Robin Sequence With Cleft Palate

Objective: To document and analyze the overall longitudinal institutional treatment experience of children with nonsyndromic Robin sequence (RS) from infancy to early adulthood. Design: Retrospective longitudinal treatment review. Setting: A tertiary-care, referral, teaching hospital. Patients: Children with nonsyndromic RS and cleft palate (N = 117) born between December, 1985, and January, 2012. Interventions: Data regarding airway management, nutritional management, audiological interventions, orthodontic treatment, and surgical interventions were documented and analyzed in different growth/developmental stages. Comparative data from other international centers were collected from the literature. Results: Airway management during infancy involved prone positioning (92%), nasopharyngeal airway (6%), tracheostomy (2%), and mandibular distraction osteogenesis (1%). Feeding with nasogastric, gastrostomy, and/or gastrojejunostomy tubes was used in 44%, Haberman feeders in 53%, and Mead Johnson feeders in 3%. Gastroesophageal reflux disease was documented in 6% of the sample. During childhood and early adolescent years, pharyngeal flap surgery was carried out in 22% of the children, while 11% had secondary palatal surgery. Audiological management included the use of tympanostomy tubes in 62%, with several children needing multiple tube replacements. At least 18% were diagnosed with obstructive sleep apnea. Adenoidectomy or adenotonsillectomy was undertaken in 4%. Analysis of data pertaining to middle childhood and adolescent years showed that orthodontic treatment was conducted for most children for crowding, tooth agenesis, and skeletal and/or dental dysplasia. Orthognathic surgery frequency (&lt;18%) was low. Conclusions: Institutional treatment experience of children with nonsyndromic RS involves multidisciplinary care at different ages and stages of their development.</p