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Pierre Robin Syndrome
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Pierre Robin Syndrome
By: Jenny Nguyen
July 2022
What is Pierre-Robin Syndrome?
Topic 1
- The Pierre Robin Syndrome is a rare malformation that consists of migrognathia, glossoptosis, and a cleft palate (Callen)
- The primary defect is retrognathic mandible which occurs at 7-11 weeks of gestation due to abnormal development of the first pharyngeal arch. This prevents the tongue from descending, which in turn prevents fusion of palatal shelves. Resulting in glossoptosis, high or u-shaped palate and airway obstruction. (Radiopaedia)
Etiology
Subtopic 1
Autosomal recessive inheritance, with a few
X-linked cases. Some authors may suggest a prenatal & neonatal brain stem dysfunction as a neuro embryological hypothesis to explain the onset of some cases of Pierre Robin sequence (Callen)
Incidence
1 in 8500 neonates (Callen)
Title
RARE!!!
Association
- Stickler syndrome and femoral facial syndrome (Radiopaedia)
- T18 as well per Callen
Topic 2
Characteristics
Subtopic 2
- May present with upper airway obstruction, sleep disturbance or apnea (Radiopaedia)
- Airway obstruction may lead to postnatal hypoxia (Radiopaedia)
- Obstruction of fetal swallowing may cause polyhydramnios (Radiopaedia)
Sonographic Findings
Topic 3
- Micrognathia- small chin
- Can lead to substantial feeding difficulties and problems with airway management after birth. (Rumack)
- Glossoptosis- abnormal downward displacement or retraction of the tongue (Said per Jeremi Martin, Sheryl Goodwin,Kristy Straps)
- Cleft palate
- Possibly Polyhydramnios
Pierre-Robin Syndrome
Subtopic 3
(Cleveland Clinic)
Micrognathia
Title
(Per Jeremi Martin, Sheryl Goodwin, & Kristy Straps Notes)
Cleft Palate
Title
(Per Jeremi Martin, Sheryl Goodwin, & Kristy Straps Notes)
Pierre Robin Syndrome
Title
(Rumack)
What is the outcome from Pierre-Robin Syndrome?
Upper airway obstruction, neonatal respiratory distress and feeding problems (Callen)
Topic 4
Management/Treatment
Termination of pregnancy can be offered before viability. Standard prenatal care is not altered when continuation of the pregnancy is chosen. Antenatal recognition is important because it allows the pediatrician to provide immediate assistance for the infant. It is a neonatal emergency because the tongue may obstruct the airways and lead to suffocation. Confirmation of diagnosis after birth is important for genetic counseling. (Callen)
Title
References
Title
Callen, P. (2008). Ultrasonography in Obstetrics and Gynecology. Philadelphia, PA: Saunders
Elsevier.
Gaillard, F. (2020, July 19). Robin sequence: Radiology reference article. Radiopaedia Blog RSS. Retrieved July 22, 2022, from https://radiopaedia.org/articles/robin-sequence?lang=us
Pierre Robin Syndrome (sequence): Facts, surgery, causes, symptoms & what it is. Cleveland Clinic. (n.d.). Retrieved July 23, 2022, from https://my.clevelandclinic.org/health/diseases/21863-pierre-robin-syndrome
Goodwin, S. Martin, J. Straps, K. (Estabilished sometime in the past, not sure). Class Notes High Risk OB. Retrieved July 23, 2022, from https://d2l.lonestar.edu/d2l/le/content/1223588/viewContent/19838789/View