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Distinctive facial features may include an abnormally round or plump (moon) face, a broad nasal bridge, widely spaced eyes (hypertelorism), crossed eyes (strabismus), downwardly slanting eyelid folds (palpebral fissures), vertical skin folds that may cover the eyes’ inner corners (epicanthal folds), low-set ears, and an abnormally small jaw (micrognathia).

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The characteristic high-pitched, shrill cry associated with cri du chat syndrome is present during the first few weeks of life.Affected children also have a higher risk of ear infections and hearing loss.Approximately 15-20 percent of affected infants have congenital heart defects.The cry, which resembles the mewing of a cat, becomes less pronounced as affected infants grow older.Affected infants may also display low birth weight, growth deficiencies, diminished muscle tone (hypotonia), and microcephaly, a condition that indicates that head circumference is smaller than would be expected for an infant’s age and sex.While children with cri du chat syndrome are born hypotonic (low muscle tone), they tend to become hypertonic (high muscle tone) as they grow older.


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