Dear Prof.Jorch 1. Two abortion symptoms appeared while pregnant, and the mother was in hospital for tocolysis. 2. Check the breech pregnancy 5 months, umbilical cord was around neck 2 rings. 3. It was to diagnosed oligohydramnios by taking B ultrasound examination at 37 weeks and 3 days, the baby was born by emergency caesarean operation. 4. The body of baby was whole body purple when she was born, but breathing normally. 5. The left hip joint was congenital dislocation when the baby was 5 months. 6. The brain CT showed normal when the baby was 8 months, but she was unable to rise head. She could rise her head after Intravenous injection of nutrient camp pin for 10 days (A course of treatment). 7. To treat congenital dislocation of hip joint with aluminum board stand fixation by plaster external. And replace of a plaster every three months. 8. The plaster was taken off when the child was 1 year and 4 months. She couldn’t stand, walk and squat. 9. She could walk when the adult hold her hands while 2 years old. Her foot could not fall to the ground and squat. 10. Brain MRI showed white matter less while 2 years old and others were normal. 11. The child was treated with rehabilitation training during 2 and 3 years old. Her walking ability was improved. She could walk with a pair of control shoes but appeared knock-knee apparently. 12. The brain CT showed a part of the brain tissue calcification. It was diagnosed to be Dany-Walke by Brain MRI. The doctor diagnosed to be Cockayne. Pathogenic mutations which have been reported or are potential have not found in inspection item ERCC6 and ERCC8. And we are still finding the reasons. 13. The child is 6 years old now. She speaks like a 2 years old child, can understand adults but could not speak clearly. She can speak some simple words. She is apt to get excited. She could not walk even with a pair of control shoes. Her foot are internal rotation deformation. She could not squat. She is about 1.06 meters tall. Her head is small , about 45 centimeters. She does not appear hyperspasmia.
von Gao Yang am 17.07.2013, 12:37
