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DE LANGES SYNDROME [1 record]

Record 1 1981-02-13

English

Subject field(s)
  • Genetics
DEF

A congenital syndrome in which severe mental retardation is associated with many abnormalities, including short stature, brachycephaly, low-set ears, webbed neck, carp mouth, depressed bridge of the nose with the end tilted up and forward-directed nostrils, bushy eyebrows meeting at the midline, unruly coarse hair growing low on the forehead and neck, and flat spade-like hands with short tapering fingers.

French

Domaine(s)
  • Génétique
DEF

Affection dégénérative rare du nourrisson, décrite par Cornélia de Lange; elle se caractérise par une physionomie clownesque typique, le petitesse des mains et des pieds, l'implantation défectueuse du pouce, une syndactylie partielle, la contracture des coudes, diverses malformations de la colonne vertébrale, une importante arriération psychomotrice et un retard considérable de la croissance pondérale et staturale.

CONT

(Syndromes à caryotype apparemment normal) Le Typus amstelodamensis (Maladie de Cornélia de Lange), malgré son aspect stéréotypé, de comporte pas d'anomalies décelables [...]

Spanish

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