According to media reports on September 7, 2023, recently, the orthopedic department of Zhejiang University Children's Hospital received a group of pediatric patients with scoliosis. Among them, 13-year-old Coco has attracted special attention, because her height has exceeded 1.7 meters, however, the family has always believed that her rapid growth in height is only normal and does not cause enough alarm.
Recently, the orthopedic department of Zhejiang University Children's Hospital received a group of pediatric patients with scoliosis, among which a 13-year-old girl attracted special attention. Her height has exceeded 1.7 meters, however, the family has always believed that the sudden increase in her height is normal and does not cause enough alarm.
In fact, the 13-year-old girl had already developed symptoms of scoliosis 4 years ago. Examinations at the local hospital found scoliosis, but because her height was still growing rapidly, it didn't attract much attention. However, when her family decided to take her to Zhejiang University Children's Hospital for surgery, doctors discovered something even more unusual.
Comparison chart before and after cocoa surgery Courtesy of the hospital
Doctors suspected that the girl might have Marfan syndrome, a rare inherited connective tissue disorder that usually results in significantly taller than normal, unusually long and uneven limbs and fingers, arms extended beyond height, and hands hanging above knees. These features are also why people with Marfan syndrome are called "spider-man".
Through genetic testing, doctors finally diagnosed the girl with Marfan syndrome and found that she also had cardiovascular problems. Doctors point out that people with Marfan syndrome need to be diagnosed and treated early because these symptoms worsen over time. Early treatment can provide better outcomes, and patients and doctors should work closely together to manage this rare genetic disorder.
Marfan syndrome is an autosomal dominant disorder, so if one parent has the disease, the risk of the child is significantly increased. In addition, some cases are caused by new mutations in the child's genes. Early genetic testing is important for early detection, early diagnosis, and early treatment.
The genetic screening project for neonatal genetic diseases launched by Zhejiang Province last year is of great significance for the early detection and management of hereditary diseases, which will help improve the prognosis and quality of life of patients.