Nager syndrome and Pierre Robin sequence

Abstract

Nager syndrome is considered a rare genetic syndrome characterized by craniofacial and radial anomalies. Pierre Robin sequence is a triad that includes micrognathia, cleft palate and glossoptosis. The present patient had typical findings of Nager syndrome and Pierre Robin sequence. He progressed to severe respiratory distress, requiring mechanical ventilation and tracheostomy. At 1 year and 11 months, he had episodes of cardiorespiratory arrest and died. In the literature review, we identified the clinical description of 44 patients with Nager syndrome. Among them, 93.1% had micrognathia, 38.6% cleft palate and 11.3% glossoptosis. Only one (2.3%) had all three features, as observed in the present patient. Therefore, despite the fact that the features of Pierre Robin sequence are common, there are few patients who have the complete triad. It is noteworthy, however, that they may be associated with respiratory distress, which may put the patient's life at risk.

Efficiency of prenatal diagnosis in Pierre Robin sequence

“…This study shows that for fetuses with a positive family history of PRS or Stickler syndrome, the agreement between prenatal US suspicion of disease and postnatal diagnosis is very good. This result underlines the importance of prenatal clinical evaluations in orienting the US examination, especially because PRS is a heterogeneous condition that can be observed in families in which the history can be a syndrome without complete PRS, such as Stickler syndrome, 22q11.21 deletion, Treacher‐Collins syndrome, or Nager syndrome . One of the parents may have a mild phenotype of these genetic conditions with risk of autosomal‐dominant transmission .…”

Management of Bilateral Temporomandibular Joint Ankylosis and Class 2 Malocclusion in a Patient With Nager Syndrome

“…1-3 Patients with Nager syndrome often exhibit syndromic Pierre–Robin sequence secondary to their hypoplastic mandible that can result in patients experiencing feeding difficulties and respiratory compromise. 4,5 Mandibular distraction osteogenesis (MDO) is frequently performed early in life as it greatly reduces the risk of patients being dependent on a tracheostomy or gastric tube. 4,5 MDO, however, has been associated with ankylosis of the temporomandibular joint (TMJ).…”

“…4,5 Mandibular distraction osteogenesis (MDO) is frequently performed early in life as it greatly reduces the risk of patients being dependent on a tracheostomy or gastric tube. 4,5 MDO, however, has been associated with ankylosis of the temporomandibular joint (TMJ). 6-8…”

Effect of tungsten on the vacancy behaviors in Ta–W alloys from first-principles calculations

“…Due to its high density, high temperature resistance, corrosion resistance, good plasticity at low temperature and moderate elastic modulus [3][4][5][6], Ta has been considered to be a potential material for high temperature applications such as nuclear engineering, aerospace and other fields [7][8][9][10][11]. Ta alloys also have strong resistance to corrosive substances and high temperature radiation [12][13][14]. Therefore, Ta has been a candidate PFM in future fusion reactors recently.…”