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Cri-Du-Chat Syndrome – A Rare Case Report

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Abstract

The Cri-du-chat Syndrome (CdCs) is a rare genetic syndrome first described by Jerome Lejeune in 1963, characterized mainly by the high pitched cat like cry. The prevalence of CdCs was varied in between 1:15,000 to 1:50,000 in live birth and more common in female gender with a ratio of 4:3 [1, 2] .The condition may be accompanied by developmental and cognitive delays, poor spatial awareness, impaired ambulation, and poor sensori-motor skills. Other associated problems described include cardiovascular, renal, gastrointestinal, neurological abnormalities, preauricular tags, syndactyly, hypospadias, and cryptorchidism.1 Recent literatures show that autistic behaviours are common in various genetic disorders [3].Fatigue level of children with cri du chat syndrome was associated with the expression of autistic features [4].

Cri-du-chat syndrome is a rare genetic disorder resulting in various physical and psychological abnormalities due the deletion of chromosome 5P-. We encountered a case of cri-du-chat syndrome having external auditory canal atresia, hearing loss with speech delay. A multidisciplinary approach is required for diagnosis and management of such patients. Otological management is early identification of hearing loss and speech rehabilitation. Awareness about antenatal screening for congenital anomalies and genetic counselling is necessary among the general population.

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Authors and Affiliations

  1. Dept. of ENT, Chettinad Hospital and Research Institute, Kelambakkam, India

    Balaji Dhanasekaran, Rajasekaran Srinivasan, Priya Kanagamuthu, Prabakaran Somu, Namasivaya Navin R.B., K. Gowthame, Sarath Kumar, C. Ramya Shree, S.R. Karthika & Greeshma U. Gopan

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  1. Balaji Dhanasekaran
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  2. Rajasekaran Srinivasan
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  3. Priya Kanagamuthu
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  4. Prabakaran Somu
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  5. Namasivaya Navin R.B.
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  6. K. Gowthame
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  7. Sarath Kumar
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  8. C. Ramya Shree
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  9. S.R. Karthika
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  10. Greeshma U. Gopan
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Correspondence to Balaji Dhanasekaran.

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Dhanasekaran, B., Srinivasan, R., Kanagamuthu, P. et al. Cri-Du-Chat Syndrome – A Rare Case Report. Indian J Otolaryngol Head Neck Surg 75, 3993–3998 (2023). https://doi.org/10.1007/s12070-023-04039-y

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  • DOI: https://doi.org/10.1007/s12070-023-04039-y

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