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Pierre-Robin Sequence is a congenital condition characterized by specific physical features and potential complications. Symptoms typically include a small chin (micrognathia), a tongue that falls backward, and obstruction of the respiratory tract. Approximately 90% of affected infants also have a cleft palate, often presenting as a U-shaped cleft, which differs from typical cleft palate formations. The incidence rate is roughly one in 8,500 births. This syndrome is associated with over 40 other conditions, necessitating genetic testing to identify any additional issues.
The underlying cause involves developmental abnormalities where the chin remains underdeveloped, causing the tongue to press against the upper palate. This interference hinders the proper formation of the jaw and leads to cleft palate. Due to the small chin, respiratory difficulties frequently arise after birth, with treatment varying based on severity.
The primary issues faced by infants with Pierre-Robin Sequence are outlined below:
Respiratory Tract Obstruction: The small chin allows the tongue to fall backward, blocking the airway. This is an immediate concern at birth, often requiring endoscopic evaluation to assess the extent of obstruction and determine subsequent steps. Breathing difficulties can lead to rapid caloric expenditure, making growth challenging.
Feeding Difficulties: Monitoring weight gain is crucial for these infants. If bottle-feeding is possible independently, specialized bottles designed for cleft palate may be used. In cases of feeding challenges, a gastrostomy tube might be necessary. Additionally, gastroesophageal reflux is common and should be addressed promptly.
Associated Conditions: Regular eye exams by an ophthalmologist are recommended between 6-12 months of age. Myopia could indicate Stickler Syndrome. Genetic testing is advisable to screen for other related disorders.
For milder cases, adjusting sleeping positions can help. Infants with Pierre-Robin Sequence are often advised against back sleeping, as it allows the tongue to obstruct the airway. Encouraging side or prone sleeping from an early age can improve airflow.
Common management strategies include:
Nasopharyngeal Airway Placement: A tube is inserted to prevent the tongue from falling back, with research indicating it resolves about 80% of respiratory issues in affected infants.
Surgical Intervention: Tongue-lip adhesion has a success rate of around 50% and is typically performed when other methods are insufficient.
Mandibular Distraction Osteogenesis: This procedure, done within the first month of life, involves placing a device to gradually lengthen the chin bone, providing immediate relief but potentially causing complications like nerve damage or future dental issues.
Tracheal Intubation: If central nervous system involvement is present, beyond just upper airway obstruction, intubation may be considered.
Respiratory problems in Pierre-Robin Sequence tend to improve gradually after the first year as the child grows. Post-cleft palate surgery, the airway may narrow further, especially with a small chin, exacerbating stenosis due to tongue positioning. In such cases, surgery is often delayed, and postoperative care includes admission to a pediatric intensive care unit.