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. 2023 Dec;75(4):3993-3998.
doi: 10.1007/s12070-023-04039-y. Epub 2023 Jun 30.

Cri-Du-Chat Syndrome - A Rare Case Report

Balaji Dhanasekaran  1 , Rajasekaran Srinivasan  1 , Priya Kanagamuthu  1 , Prabakaran Somu  1 , Namasivaya Navin R B  1 , K Gowthame  1 , Sarath Kumar  1 , C Ramya Shree  1 , S R Karthika  1 , Greeshma U Gopan  1
Affiliations

Cri-Du-Chat Syndrome - A Rare Case Report

Balaji Dhanasekaran et al. Indian J Otolaryngol Head Neck Surg. 2023 Dec.

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.

Keywords: Bera; Criduchat syndrome; External auditory canal stenosis; Hearing loss.

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Figures

Fig. 1
Fig. 1
Appearance of a CRI-DU-CHAT syndrome child
Fig. 2
Fig. 2
Transverse flexion crease
Fig. 3
Fig. 3
Microcephaly and retrognathia observed in the child
Fig. 4
Fig. 4
Appearance of low set ears, large nasal bridge, rounded face, hypertelorism, down-turned corners of the mouth, downward slanting palpebral fissures
Fig. 5
Fig. 5
Bilateral club foot
Fig. 6
Fig. 6
Stenosis of right external auditory canal, Normal left external auditory canal
Fig. 7
Fig. 7
BERA
Fig. 8
Fig. 8
Chromosomal microarray analysis was done which revealed abnormality
See this image and copyright information in PMC

References

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