Monday, April 25, 2011

Cri-du-chat



Cri-du-chat: Group of symptoms that result from missing piece of chromosome number 5. Syndrome based on the infant’s cry, which is high-pitched and sounds like a cat.

Etiology: Genetic information on chromosome 5 is missing. One missing piece is called TERT (telomerase reverse transcriptase).

Diagnosis: Made at birth by clinical observation. Infant’s cry sounds like a high-pitched cat.

System/medical conditions associated: Cry that is high-pitched and sounds like a cat. Downward slant to the eyes. Low birth weight and slow growth, low-set or abnormally shaped ears, mental disability, partial webbing or fusing of fingers or toes, single line in the palm of the hand, skin tags, slow or incomplete development of motor skills, small head, small jaw, wide set eyes. Cardiac abnormalities which may require surgical correction.

Oral manifestations: Small jaw, speech delay. Cleft lip and palate.

Dental needs: Frequent examination and prevention techniques. Treatment of special needs patient. Cleft lip and palate treatment.

Recent information: Children may be treated by speech, sound and occupational therapists.

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