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CRI DU CHAT SYNDROME [4 records]
Record 1 - internal organization data 1981-04-21
Record 1, English
Record 1, Subject field(s)
- Histology
Record 1, Main entry term, English
- cri du chat syndrome 1, record 1, English, cri%20du%20chat%20syndrome
Record 1, Abbreviations, English
Record 1, Synonyms, English
- cat cry syndrome 1, record 1, English, cat%20cry%20syndrome
- crying cat syndrome 1, record 1, English, crying%20cat%20syndrome
- deletion of short arm of chromosome 5 1, record 1, English, deletion%20of%20short%20arm%20of%20chromosome%205
- B1 deletion syndrome 1, record 1, English, B1%20deletion%20syndrome
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
A hereditary congenital syndrome characterized by hypertelorism, microcephaly, severe mental deficiency, and a plaintive catlike cry, due to deletion of the short arm of a chromosome (4 or 5) of the B group. 1, record 1, English, - cri%20du%20chat%20syndrome
Record number: 1, Textual support number: 1 CONT
Deletions of the short arms of both the early and late replicating pair have been reported, and evidence suggests that the cri du chat syndrome... results from a substantial deficiency of genetic material in the short arms of the shorter early-replicating chromosome pair(No 5). 1, record 1, English, - cri%20du%20chat%20syndrome
Record 1, French
Record 1, Domaine(s)
- Histologie
Record 1, Main entry term, French
- syndrome du cri du chat
1, record 1, French, syndrome%20du%20cri%20du%20chat
masculine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
- syndrome de Lejeune 1, record 1, French, syndrome%20de%20Lejeune
see observation, masculine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 DEF
Syndrome décrit chez le nourrisson [...] et caractérisé par : 1) des anomalies morphologiques comprenant une microcéphalie, un hypertélorisme avec épicanthus, une implantation basse des oreille, un micro- et un rétrognathisme; 2) une arriération mentale profonde; 3) une consonance particulière du cri comparable au cri du chat; 4) des anomalies dermatoglyphiques à savoir un triradius palmaire en position t' et un équivalent du pli palmaire transverse unique; 5) une aberration chromosomique caractérisée par une amputation de la moitié environ des bras courts d'un chromosome 4-5. 1, record 1, French, - syndrome%20du%20cri%20du%20chat
Record number: 1, Textual support number: 1 CONT
Ce symptôme est tellement typique pour le tableau pathologique, que Lejeune et Coll. ont préconisé la dénomination assez triviale de «syndrome du cri du chat». 1, record 1, French, - syndrome%20du%20cri%20du%20chat
Record number: 1, Textual support number: 1 OBS
«syndrome de Lejeune» : Syndrome (plurimalformatif) de Lejeune 1, record 1, French, - syndrome%20du%20cri%20du%20chat
Record 1, Key term(s)
- syndrome plurimalformatif de Lejeune
Record 1, Spanish
Record 1, Textual support, Spanish
Record 2 - internal organization data 1981-04-21
Record 2, English
Record 2, Subject field(s)
- Histology
Record 2, Main entry term, English
Record 2, Abbreviations, English
Record 2, Synonyms, English
Record 2, Textual support, English
Record number: 2, Textual support number: 1 DEF
Pattern of parallel ridges making an angle of 180 ° and containing one triradius. 1, record 2, English, - loop
Record number: 2, Textual support number: 1 CONT
(Cri du Chat Syndrome) The large number of digits with whorls in patients with 18q-is a consistent observation and no doubt results in a high total ridge count. In those with 18q-, a combination of loops and whorls also tends to increase the ridge count. 1, record 2, English, - loop
Record 2, French
Record 2, Domaine(s)
- Histologie
Record 2, Main entry term, French
- boucle
1, record 2, French, boucle
feminine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
Record 2, Textual support, French
Record number: 2, Textual support number: 1 DEF
Figure formée par les crêtes épidermiques, sur les régions palmaires ou sur les extrémités digitales et qui comporte un triradius. 1, record 2, French, - boucle
Record number: 2, Textual support number: 1 CONT
Les crêtes dermiques situées sur la pulpe des dernières phalanges peuvent dessiner trois types de figure : l'arche [...], la boucle [...] et le tourbillon [...]. 1, record 2, French, - boucle
Record 2, Spanish
Record 2, Textual support, Spanish
Record 3 - internal organization data 1981-04-21
Record 3, English
Record 3, Subject field(s)
- Genetics
- Musculoskeletal System
Record 3, Main entry term, English
- retrognathism 1, record 3, English, retrognathism
Record 3, Abbreviations, English
Record 3, Synonyms, English
- retrognathia 1, record 3, English, retrognathia
Record 3, Textual support, English
Record number: 3, Textual support number: 1 DEF
Posterior deviation of the mandible. 1, record 3, English, - retrognathism
Record number: 3, Textual support number: 1 CONT
(Cri du chat syndrome)... we suggest that the number 5 be definitely given to the chromosome partial deletion of the short arm of which determines the clinical syndrome observed : multiple malformations including microcephaly, hypertelorism with epicanthus, normal ear lobes but low set; and micro-and retrognathism. 1, record 3, English, - retrognathism
Record 3, French
Record 3, Domaine(s)
- Génétique
- Appareil locomoteur (Médecine)
Record 3, Main entry term, French
- rétrognathie
1, record 3, French, r%C3%A9trognathie
feminine noun
Record 3, Abbreviations, French
Record 3, Synonyms, French
Record 3, Textual support, French
Record number: 3, Textual support number: 1 DEF
Position trop postérieure de l'os basal mandibulaire ou des os maxillaires supérieurs. 1, record 3, French, - r%C3%A9trognathie
Record number: 3, Textual support number: 1 CONT
(Le syndrome du cri du chat) Ce sont des enfants microcéphales avec un visage rond (moon face) et une nette rétrognathie inférieure. 1, record 3, French, - r%C3%A9trognathie
Record 3, Spanish
Record 3, Textual support, Spanish
Record 4 - internal organization data 1981-02-13
Record 4, English
Record 4, Subject field(s)
- Genetics
Record 4, Main entry term, English
- laryngomalacia 1, record 4, English, laryngomalacia
Record 4, Abbreviations, English
Record 4, Synonyms, English
- congenital stridor 1, record 4, English, congenital%20stridor
Record 4, Textual support, English
Record number: 4, Textual support number: 1 OBS
Flaccidity of the epiglottis and aryepiglottic folds, as in congenital laryngeal stridor. 1, record 4, English, - laryngomalacia
Record number: 4, Textual support number: 2 OBS
(Deletion of half the short arm of 5(Cri du chat syndrome)) This latter sign, extremely typical in the first month of life, seems to be related to a supraglottal hypoplasia with laryngomalacia. 1, record 4, English, - laryngomalacia
Record number: 4, Textual support number: 3 OBS
The "Dictionnaire de médecine" (Flammarion) mentions "congenital stridor" as [a] translation for "laryngomalacie". In fact, it is a looseness. According to French authors chronic (or congenital) stridors of the new-born are subdivided into tracheal and laryngeal stridors, and 60% of the cases of laryngeal stridors are known as laryngomalacia. 1, record 4, English, - laryngomalacia
Record 4, French
Record 4, Domaine(s)
- Génétique
Record 4, Main entry term, French
- laryngomalacie
1, record 4, French, laryngomalacie
feminine noun
Record 4, Abbreviations, French
Record 4, Synonyms, French
- stridor laryngé congénital 1, record 4, French, stridor%20laryng%C3%A9%20cong%C3%A9nital
masculine noun
Record 4, Textual support, French
Record number: 4, Textual support number: 1 OBS
Affection congénitale caractérisée par l'apparition, dans les premiers jours de la vie, d'un bruit respiratoire, à type de cornage, variable et intermittent, souvent associé à des troubles de la déglutition, à des accès dyspnéiques parfois dramatiques et à d'autres anomalies. 1, record 4, French, - laryngomalacie
Record number: 4, Textual support number: 2 OBS
(Délétion du bras court de l'autosome 8) Cette laryngomalacie serait la cause du curieux stridor de ces petits patients. 1, record 4, French, - laryngomalacie
Record 4, Spanish
Record 4, Textual support, Spanish
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