Medical history included premature birth at 31 weeks with grade I intraventricular hemorrhage. Neurological examination was notable for diffuse hypotonia and global developmental delay, but without focal deficit, incontinence, or prior urinary tract infections.

We additionally report a case of a PRS patient presenting with tethered cord and lumbar syrinx in the setting of chromosome 10q terminal deletion.Ī 6-month-old female with a history of PRS was found to have a sacral dimple during a routine outpatient checkup. We thus performed a systematic review of spinal disease in patients with PRS. The molecular genetic and clinical characteristics of spinal disease in PRS remain poorly characterized. Spinal pathologies have rarely been reported in association with PRS, often co-occurring with other congenital anomalies. PRS is most commonly associated with hearing loss, dysmorphic facial features, global developmental delay/intellectual disability, and/or congenital heart defects. Approximately 50% of PRS cases are isolated (non-syndromic), while the remainder are associated with additional anomalies such as a genetic or acquired syndrome. The reported incidence varies widely with an approximate occurrence of 1 in 8500 to 14,000 births. This technique can be performed in an infant which is a significant advantage over the traditional technique of lower jaw lengthening.The Pierre Robin sequence (PRS), also known as Robin sequence, is a pattern of congenital facial abnormalities comprising micrognathia, glossoptosis, and airway obstruction. Once the amount of expansion of the bone has been obtained (3-4 weeks) the device is then kept in place until the bone gap heals with new bone formation (6-8 weeks). An incision is required to make a surgical cut through the jaw bone with placement of an internal distractor with only a small arm exiting behind the ear that is used to turn the distractor. This technique also called distraction osteogenesis involves placement of an expansion device that is turned daily to slowly lengthen the jaw. In children with severe underdevelopment of the lower jaw, this technique called mandibular bone distraction is now available. If this type of treatment fails the infant should then be considered for a bilateral distraction of the mandible to pull the tongue forward opening up the airway and avoiding a tracheostomy. This causes the jaw and the tongue to fall forward opening the airway. The majority of these patients can be managed by placing the infant in the prone position until the adequate growth of the jaw occurs. Treatment of this syndrome can be divided into conservative therapy versus surgical intervention. This vicious cycle of events if untreated can lead to exhaustion, cardiac failure, and ultimately death. This can lead to a sequence of events: glossoptosis, airway obstruction, crying or straining with increased energy expenditure and decreased oral intake. Due to these respiratory problems, feeding may become very difficult. However, when the child relaxes or falls asleep, airway obstruction occurs. Crying or straining by these children can often keep the airway open. This results in obstruction of the airway on inspiration. In patients with micrognathia (small jaw) or retrognathia, the chin is posteriorly displaced causing the tongue to fall back toward the posterior pharyngeal wall.

Micrognathia and pierre robin sequence