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Doctors consult on case of boy with rare genetic disorder
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Doctors from local and American hospitals consulted today about the case of an 11-year-old Shanghai boy with Cri du Chat syndrome, an uncommon genetic disorder.
The boy was diagnosed with Cri du Chat, named after a French term for the cat-like crying sufferers make, at the age of three. A missing or partly missing chromosome 5 characterizes the condition.
It affects an estimated 1 in 50,000 newborns. At birth, sufferers may have feeding problems due to difficulty swallowing and sucking. Cri du Chat patients may also have serious cognitive, speech, and motor delays, along with behavioral problems, and unusual facial features like a small head or jaw.
There is no cure although doctors can prescribe medication and guidance to help patients.
“Fortunately, the boy’s parents don’t have chromosome problems by themselves and their second child, a one-year-old boy, is healthy,” said Dr Shen Yiping from Boston Children’s Hospital.
He said the boy is the oldest he’s seen with Cri du Chat in China.
Doctors said pregnant women should receive prenatal genetic screening for early intervention.
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