What are the distinctive clinical features of cri-du-chat syndrome?
None material — high-pitched cat-like cry, microcephaly, broad nasal bridge are consistently described.
Generation outcome
Gold documents (2)
- Cri du Chat syndrome.
- Cri-du-chat syndrome.
Retrieved documents (6)
- Cri-Du-Chat Syndrome Associated With Meningomyelocele: A Case Report.pubmed:37908952
- Cri-du-chat syndrome.pubmed:18437967gold
- Cri du chat syndrome: a critical review.pubmed:20038906
- Retinopathy in a Full-Term Infant with Cri-du-Chat Syndrome.pubmed:33517598
- Cri du Chat syndrome.pubmed:16953888gold
- Craniofacial characteristics in cri-du-chat syndrome.pubmed:21112524
Generated claims (9)
Cri-du-chat syndrome is a genetic disorder caused by a deletion on the short arm of chromosome 5.
The main clinical feature is a high-pitched monochromatic cat-like cry that usually disappears in the first years of life.
Microcephaly, broad nasal bridge, epicanthal folds, and micrognathia are typical physical features.
Severe psychomotor and mental retardation are present in most cases.
Congenital heart conditions, such as atrial septal defect and ventricular septal defect, are common.
Orofacial anomalies include mandibular microretrognathia, high palate, variable malocclusion, and enamel hypoplasia.
Craniofacial morphology shows skeletal class II malocclusion due to mandibular retrognathism.
Ocular manifestations such as peripheral avascular retina and retinal hemorrhages have been documented.
Developmental delays and other malformations, such as laryngomalacia and strabismus, are associated with the syndrome.