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Today, 24 November 2009

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Yesterday, 23 November 2009

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Question

Please may I have some information about cri-du-chat syndrome?

Answer

Cri-du-chat syndrome results from a deletion of part of a specific chromosome. It gets its name from the characteristic high-pitched, mewling cry resembling the mewing of a kitten, which these babies have. It is heard in the immediate new born period, lasts for a few weeks and then disappears.

Children with this chromosome deletion usually have low birth weight, microcephaly (small head), asymmetric facial features. They may also have a round, so-called moon face with wide set-eyes. They may also have downward sloping eye folds, a squint and a braod-based nose. The ears are low set, abnormally shaped, often with abnormally narrow canals and skin tags in front of the ears.

They also have a short neck. Heart defects are common and the babies are floppy, with little muscle tone.

A significant number survive to adulthood, but are mentally retarded.

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