Pub Date : 2023-12-01Epub Date: 2023-06-30DOI: 10.1007/s12070-023-04039-y
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
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.
Cri-du-chat综合征(cdc)是一种罕见的遗传综合征，由Jerome Lejeune于1963年首次描述，主要表现为像猫一样的尖叫声。活产婴儿的cdc患病率在1:15,000 ~ 1:5,000之间变化，在女性中更为常见，比例为4:3[1,2]。该病可能伴有发育和认知迟缓，空间意识差，行走障碍和感觉运动技能差。其他相关疾病包括心血管、肾脏、胃肠、神经系统异常、耳前标签、并趾、尿道下裂和隐睾最近的文献表明，自闭症行为在各种遗传疾病中都很常见。cri du chat综合征患儿的疲劳程度与自闭症特征[4]的表达相关。Cri-du-chat综合征是一种罕见的遗传性疾病，由于5P-染色体缺失导致各种生理和心理异常。我们遇到一例cri-du-chat综合征伴有外耳道闭锁、听力丧失和语言迟缓。这类患者的诊断和治疗需要多学科方法。耳科治疗是听力损失的早期识别和语言康复。在一般人群中，有必要了解先天性异常的产前筛查和遗传咨询。
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