Pierre Robin Syndrome vs. Trisomy 18

Pierre Robin Syndrome vs. Trisomy 18

Left picture: This newborn has a Pierre Robin syndrome. An RDS or respiratory signs are mainly observed in prone position when the tongue, which is lying behind in the oral cavity, is falling further backward and obstructs the airways. Right picture: In this neonate the madibular retrognathism is a part of trisomy 18 to which belong the described findings, other anomalies of the internal organs, and others. The differentiation of the leading symptom ´retrognathism´ is not only important because of the possibility of a respiratory distress syndrome, but also regarding the association with a well-defined syndrome, and, as in this case, for the prognostication of survival. The survival amounts to a mean time of 2 to 3 months in the case of trisomy 18.

Both neonates have a retrognathism (= underdevelopment and retrodisplacement) of the lower jaw, but no severe respiratory distress syndrome is visible at the moment of photography. Left picture: No additional anomalies are visible on external inspection. Nevertheless, the patient exhibits a partial cleft palate on inspection of the oral cavity. Right picture: In addition to the mandibular retrognathism, contractions of the right hand and fingers, and a sligth dysplasia of the left auricle are recognizable.