Deletion 5p Cri du Chat Syndrome

Lejeune and his colleagues195 originally described the syndrome due to the partial deletion of the short arm of chromosome 5. Affected individuals have a low birth weight and are hypotonic; the neonatal growth rate is slow. The catlike cry is most noticeable in infancy and is attributable to an abnormality in structure of the larynx. Findings include microcephaly with a round face, micrognathia, low-set ears, and cardiac malformations. Ophthalmic features include a up- or downward slanting of the palpebral fissures, hypo- or hypertelorism, epicanthus, ble-pharoptosis, myopia, reduced tear production, strabismus with or without reduced abduction, cataracts, glaucoma, tortuous retinal vessels, foveal hypoplasia, optic atrophy, and coloboma-tous microphthalmia.33,77,88,157,211,245,383

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