Schaaf-Yang syndrome in a neonate caused by MAGEL2 gene mutation: a case report / 中华围产医学杂志

In this study, we reported a patient with neonatal-onset Schaaf-Yang syndrome (SYS). The girl was the second singleton child of a healthy, nonconsanguineous couple. She suffered from hypoxic asphyxia at birth and soon developed persistent respiratory distress. She was also diagnosed with neonatal encephalopathy, congenital heart disease, pneumonia, sepsis, neonatal jaundice, congenital laryngeal achondroplasia, and paralysis of vocal cord were diagnosed after admission. She spent the first one month of life in the neonatal intensive care unit and was treated with mechanical ventilation, nutritional support and anti-infectives. Then the baby was discharged as her parents' request and died of respiratory failure at the age of 2 months. Whole exome sequencing detected, a heterozygous nonsense mutation of c.1912C>T(p.Q638X) in MAGEL2 in the fetus, which was inherited from her father but not found in her mother.

The treatment and prevention of pathological dislocation of the hip following septic arthritis in the newborns / 中华骨科杂志

Objective To evaluate the results of the treatment and prevention measures for pathological dislocation of the hip following septic arthritis in the newborns. Methods Twenty cases undergone open reduction were studied restropectively. In addition, greater trochanterplasty was penformed in 15 cases, acetabularplasty in 14 cases, greater and lesser trochanterplasty in 2 cases. Rusults A successful rate of reduction achieved in 90％ of the patients; however, central reduction was achieved in only 38.8％ . 20 patients were followed-up for 6 months to 12 years. The stability and motility of the hip gradually improved in majority of the patients. The cases with severe destruction followed by absence of femoral head and neck had unsatisfactory results. Shortening deformity were found in six cases, and subluxation, dislocation, rigidity of the hip in one case each. Conclusion The greater trochanterplasty had a good result for reduction and maintaining the position. Early diagnosis and early open drainage were key measures for prevention of pathological dislocation of the hip resulting from the acute septic arthritis in the newborn.