Cri Du Chat Syndrome

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[edit] Cri Du Chat Syndrome

This chromosomal abnormality, where a small telomeric piece of the short arm of chromosome 5 is missing, was detected first in the newborn nursery because of a cat-like cry of a baby. The French expression for “cry of a kitten” is what gave this syndrome its name. It occurs at a rate of 1 in 50,000.

Signs and symptoms

A number of abnormalities are found in this syndrome. There is a short stature, a small head (microcephaly), and a moonlike face. The eyes are too far apart (hypertelorism) and there is a wide and flat nose. The roof of the mouth is higher than normal, which leads to feeding and eating problems. There is an accentuated skin fold over the inner eyelids (nasal epicanthic folds). The ears are low set and may be malformed. The hand has an abnormal crease, called simian crease that helps in the diagnosis of this condition. Congenital heart diseases such as ventricular and atrial septal defects are common. Mental retardation is part of the syndrome.

Prognosis

By 2 years of age about 33% of the children will lose the cat-like cry. Depending on the malformations present these individuals may lead a relatively normal life except for learning difficulties and behavior problems (aggression, hyperactivity, repetitive movements). Most cases will enter puberty normally, but males have smaller testicles, while women have uterus malformations (bicornuate uterus). The degree of mental retardation will determine whether these individuals can form a lasting relationship; the more severe forms will end up in care homes.

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Chromosomal Abnormalities

References:

1. Behrman: Nelson Textbook of Pediatrics, 17th ed. Copyright © 2004 Saunders, An Imprint of Elsevier

2. http://www.celebratingjulia.com/What.html (good summary)