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Lejeune's syndrome

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A dysmorphy syndrome caused characterized by severe mental deficiency, growth retardation, and a peculiar crying sound resembling that of a suffering kitten.

Description

A dysmorphy syndrome caused by deletion of the terminal segment of the short arm of chromosome 5p. It is characterized by severe mental deficiency, growth retardation, and a peculiar crying sound resembling that of a suffering kitten (hence the synonym crying cat syndrome), that disappears within weeks or months after birth. Multiple abnormalities include microcephaly, round face, hypertelorism, antimongoloid palpebral slant, epicanthus, large frontal sinuses, broad nasal bones, and low-set ears.

Bibliography

  • J. Lejeune, J. Lafourcade, R. Berger, J. Vialatte, M. Boeswillwald, P. Séringe, R. Turpin:
    Trois cas de délétion partielle du brascourt d’un chromosome 5.
    Comptes rendus de l’Académie des sciences, Paris, 1963, 257: 3098-3102.

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