
China’s genome center , BGI, announced Wednesday that a seven month fail-to-thrive baby in China’s southern city of Shenzhen may suffer from Costello syndrome, according to the Southern Capital Daily.
The baby, nicknamed Long Long, was born on January 3 with a birth weight of 8 pounds and birth length of 1.6 feet.
But seven months later, the baby still weighs the same and looks like a skeleton. He can not turn his body, nor can he raise his head. His parents are very worried and bring him to see doctors every month.
BGI, formerly known as Beijing Genomics Institute, took over his case early this month and collected blood samples of Long Long and his parents.
After analyzing his genome data, BGI scientists announced that he may suffer from Costello syndrome.
Costello syndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder that affects many parts of the body.
It is characterized by delayed development and mental retardation, distinctive facial features, unusually flexible joints, and loose folds of extra skin, especially on the hands and feet.
Infants with Costello syndrome may be large at birth, but grow more slowly than other children and have difficulty feeding. Later in life, people with this condition have relatively short stature and many have reduced levels of growth hormones.
BGI is one of the world's premier genome sequencing centers, headquartered in Shenzhen, southern China’s Guangdong province.
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