People with Marfan syndrome have an unusually long height, abnormally long limbs and may develop cardiovascular, eye, and skeletal complications.
On January 6, Hospital E, Hanoi, announced a case of a 11-year-old boy in Thanh Hoa, 1.8 meters tall, with abnormal manifestations in the extremities. The fingers and toes are long, larger than their peers, and the baby’s chest is protruding.
The results of a full body X-ray, DNA test to detect damage in the gene segment (FBN1), determine the baby has Marfan syndrome. This is a genetic disorder that affects connective tissue, causing damage to many organs in the body such as the heart, eyes, lungs, blood vessels, ligaments, and bones.
Marfan syndrome makes the patient deficient in a type of fibrillin in the tissue. This causes parts such as their limbs to contract abnormally under stress. The faulty gene fibrillin also causes some parts of the bones to elongate than normal.
Data shows that the global Marfan prevalence is one in 3,000 people. Typical features include tall, unusually long fingers, congenital heart defects and eye problems. This syndrome cannot be cured. Doctors often focus on controlling symptoms including loose joints, arched spine.
According to the National Health Service (NHS) UK, children often inherit the condition from their parents. There are also people who develop the disease during adulthood, not by birth. In most cases, the disease worsens over time.
Marfan disease can cause dangerous complications, including cardiovascular complications. People with Marfan often experience aortic aneurysm, aortic dissection, and heart valve defects.
Some patients also experience eye complications such as lens aberration, in which the focused lens in the eye moves out of position as the support structure weakens. They have retinal problems, early onset cataracts.
Others had bone complications. Marfan syndrome increases the risk of abnormal spinal curvature, scoliosis. This interferes with normal rib development, possibly causing the sternum to protrude or indent.
The highest family in England has also been reported to have this syndrome. Bianca Brouwers, 33 years old, is 1.9 meters tall. Her daughters, Leah, 12, Emma, 6, and Lexi, 4, all have Marfan.
“The immature Leah is 1.79 m tall. Emma is 1.2 m tall, ahead of her classmates. Lexi wears her clothes twice her age,” Brouwers said.
Her sister and niece Miss Brouwers, 32, and Natascha, 15, also have the problem. Both are over 1.8 m high.
Her children are in relatively normal health. When she was born, Lexi was even smaller than other children, weighing only 2.7 kg. Leah is in stable condition, weighing 3.6 kg when born. Emma’s weight is 5 kg, plumper than usual.
Two weeks after birth, the youngest Lexi was diagnosed with Cri du Chat syndrome, also known as cat chirping syndrome or 5p chromosomal deletion syndrome. Infected children often have high-pitched, high-pitched, cat-like calls. The most common symptoms are a baby’s head, small jaws, wide eyes and low ears.
But when he saw Lexi’s slender toes and fingers, the doctor diagnosed her with Marfan syndrome, just like her sisters and mothers.
“The doctor said that my baby is the only girl in the world with both of these conditions. At that time we did not know what disease she would develop, become small or become a giant like women. in the family, “Brouwers said.
At first, Lexi was quite stunted. Up to one year old, she still wears baby clothes 0-3 months. Over a year old, you grow up rapidly.
“It was like her limbs were stretching out for one night. The doctor realized that Marfan syndrome had prevailed,” Brouwers said.
Now, Lexi is nearly 1.2 meters tall, wearing clothes designed for children 8 to 9 years old. This condition makes it difficult for me to walk and talk.
“It’s heartbreaking to think I might never hear you call me. But I did other important things as well. I climbed onto my stuff and started going to school. She couldn’t say, Always giggling and having a lot of friends. We are all proud of our children, “Brouwers said.
Thuc Linh (According to the Daily Mail, Mayo Clinic)