"Cri Du Chat" Syndrome

Ricci, Nicola; Ventimiglia, B; Dallapiccola, Bruno; Franceschini, F; G, Preto

doi:10.1016/s0140-6736(65)91937-9

Cited by 11 publications

(1 citation statement)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In another series of 18 cases reviewed by Berg et al (1965) 16 had the typical cri-du-chat and one was doubtful. Attention has been drawn to the fact that in older patients the cri-du-chat may be absent (Ricci, Ventimiglia, Dallapiccola, Franceschini, and Preto (1965), and this may make the diagnosis very difficult if not impossible on clinical grounds in older children or adults. Some authors have not found any abnormality in the larynx, but a leading article in the Lancet (1965) mentioned a soft mobile epiglottis and underdevelopment of the larynx as being responsible for the cri-du-chat.…”

Section: Discussionmentioning

confidence: 99%

Neurological abnormalities in the `cri-du-chat' syndrome

Colover

Lucas

Comley

et al. 1972

Journal of Neurology, Neurosurgery & Psychiatry

View full text Add to dashboard Cite

SUMMARY An unusual case of the cri-du-chat syndrome is described in a 61 year old boy, who, as well as attacks of stridor and choking, showed disorders of spatial perception and cerebellar signs in the form of nystagmus, clumsiness of the hands, and ataxia. Pyramidal signs were also present. He was only mildly retarded mentally. Psychological testing showed that he had a severe deficit for number processing, and also constructional apraxia. Surprisingly, his vocabulary was quite good, as was his reading capacity. Chromosome analysis showed a very small deletion of the short arm of the group B chromosome. In infancy this diagnosis may be suspected because of the high-pitched cry and attacks of stridor and choking. In late childhood, when the signs may be only of a neurological disorder, its recognition may be difficult without confirmation from chromosome studies. The neurological features of this disease are reviewed.

show abstract

Section: Discussionmentioning

confidence: 99%

Neurological abnormalities in the `cri-du-chat' syndrome

Colover

Lucas

Comley

et al. 1972

Journal of Neurology, Neurosurgery & Psychiatry

View full text Add to dashboard Cite

show abstract

Medical Disorders with Associated Dermatoglyphic Abnormalities

Schaumann

Alter

1976

Dermatoglyphics in Medical Disorders

View full text Add to dashboard Cite

The cri du chat syndrome

Niebuhr

1978

Hum Genet

275

View full text Add to dashboard Cite

Data for 331 cri du chat cases, including 34 Danish probands, are reviewed. The incidence nad the prevalence among the mentally retarded population amounted to 1/45,000 and 1.5/1000, respectively. No striking association with prenatal events, parental ages, or birth order could be demonstrated. There was a significant excess of females. Parental translocations were present in slightly more than 10% of the families, while more rare cytogenetic aberrations (mosaicism, rings, and de novo translocations) accounted for less than 10% of all cases. The phenotypically relevant segment has been narrowed down to the midportion of the 5p15 band. Clinical, radiologic, and dermatoglyphic features are summarized and discussed, with special attention to the abnormal cry, which persists in many older probands, and to developmental abnormalities. No obvious correlation could be detected between clinical features and the localization of the deletion. No marker locus has yet been assigned to the short arm of chromosome 5. Treatment and prevention are briefly discussed.

show abstract

"Cri Du Chat" Syndrome

Cited by 11 publications

References 4 publications

Neurological abnormalities in the `cri-du-chat' syndrome

Neurological abnormalities in the `cri-du-chat' syndrome

Medical Disorders with Associated Dermatoglyphic Abnormalities

The cri du chat syndrome

Contact Info

Product

Resources

About