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Journal articles on the topic 'Cri-du-chat syndrome'

Author: Grafiati

Published: 25 July 2021

Last updated: 29 July 2025

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1

Rini, Eka Agustia, and R. Trin Suciati. "Cri-du-chat syndrome." Paediatrica Indonesiana 47, no. 3 (2007): 136. http://dx.doi.org/10.14238/pi47.3.2007.136-8.

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Cri-du-chat syndrome (CDCS) is a rare chromosomal disorder, refers to a unique combination of physical and mental characteristics associated with a loss of genetic material on the distal short arm of the fifth chromosome.1 The incidence of CDCS is between 1:25,000 to 1:50,000 births. The prevalence among individuals with mental retardation is about 1.5 in 1000.2 A significant female predominance exists in affected newborns, with a male-to-female ratio of 0.72.2Subtle dysmorphism with neonatal complications and a high-pitched cry typically initiate diagnostic evaluation by cytogenetic studies.

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2

Cuming, Lyndsay, Donna Diamond, Rouin Amirfeyz, and Martin Gargan. "Cri du Chat syndrome." Orthopaedics and Trauma 24, no. 2 (2010): 164–66. http://dx.doi.org/10.1016/j.mporth.2009.11.002.

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3

Gordon, R. R. "The Cri du Chat Syndrome." Developmental Medicine & Child Neurology 7, no. 4 (2008): 423–25. http://dx.doi.org/10.1111/j.1469-8749.1965.tb08233.x.

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4

MILUNSKY, A., and R. G. CHITHAM. "THE CRI DU CHAT SYNDROME*." Journal of Intellectual Disability Research 10, no. 2 (2008): 153–57. http://dx.doi.org/10.1111/j.1365-2788.1966.tb00182.x.

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5

Bella, H., A. Ourrai, A. Radi, A. Hassani, A. Agadr, and R. Abilkassem. "Cri Du Chat Syndrome: A Case Study." SAS Journal of Medicine 10, no. 02 (2024): 140–43. http://dx.doi.org/10.36347/sasjm.2024.v10i02.012.

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Cri du Chat syndrome (CdCS) is a chromosomal abnormality resulting from a deletion of variable size at the end of the short arm of chromosome 5 (5p), including a critical region located at p15.2. It is one of the most common chromosomal deletions, with an incidence in the general population of between 1:20,000 and 1:50,000. Clinical features include an acute monochromatic cry, microcephaly, characteristic craniofacial dysmorphia progressing with age and significant mental and psychomotor retardation. The size of the deletion varies, and treatment depends on the various symptoms. Parental chrom

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6

Hong, Yu Chan, Eom Ji Choi, Yo Han Ho, Oh Kyung Lee, and Young Suk Kim. "Cri-du-chat Syndrome with Dysphagia." Perinatology 29, no. 1 (2018): 48. http://dx.doi.org/10.14734/pn.2018.29.1.48.

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7

Shiono, Hiroshi, Jun-Ichi Kadowaki, and Hisashi Kazama. "Dermatoglyphics in Cri du Chat syndrome." Clinical Genetics 11, no. 2 (2008): 214–18. http://dx.doi.org/10.1111/j.1399-0004.1977.tb01302.x.

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8

XIE, YINGJUN, YI ZHOU, JIANZHU WU, YUNXIA SUN, YONGZHEN CHEN, and BAOJIANG CHEN. "When Cri du chat syndrome meets Edwards syndrome." Molecular Medicine Reports 11, no. 3 (2014): 1933–38. http://dx.doi.org/10.3892/mmr.2014.2920.

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9

Gordon, R. R., and Patricia Cooke. "Facial Appearance in Cri du Chat Syndrome." Developmental Medicine & Child Neurology 10, no. 1 (2008): 69–76. http://dx.doi.org/10.1111/j.1469-8749.1968.tb02840.x.

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10

Collins, M. S. R. "Growth study of cri du chat syndrome." Archives of Disease in Childhood 85, no. 4 (2001): 337–38. http://dx.doi.org/10.1136/adc.85.4.337.

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11

Torres, Carolina Paes, Maria Cristina Borsatto, Alexandra Mussolino Queiroz, Fernanda Campos Rosetti Lessa, and lara Agusta Orsi. "Cri du Chat Syndrome: A Case Report." Special Care in Dentistry 25, no. 6 (2005): 286–88. http://dx.doi.org/10.1111/j.1754-4505.2005.tb01402.x.

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12

Yáñez-Vico, Rosa-María, Ángela Rodríguez-Caballero, Alejandro Iglesias-Linares, et al. "Craniofacial characteristics in cri-du-chat syndrome." Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology 110, no. 6 (2010): e38-e44. http://dx.doi.org/10.1016/j.tripleo.2010.08.021.

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13

Hope, William C., Jose A. Cordovez, Jenina E. Capasso, et al. "Peters anomaly in cri-du-chat syndrome." Journal of American Association for Pediatric Ophthalmology and Strabismus 19, no. 3 (2015): 277–79. http://dx.doi.org/10.1016/j.jaapos.2015.01.018.

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14

Erlenkamp, Sonja, and Kristian Emil Kristoffersen. "Sign communication in Cri du chat syndrome." Journal of Communication Disorders 43, no. 3 (2010): 225–51. http://dx.doi.org/10.1016/j.jcomdis.2010.03.002.

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15

Niebuhr, E. "Anthropometry in the Cri du Chat syndrome." Clinical Genetics 16, no. 2 (2008): 82–93. http://dx.doi.org/10.1111/j.1399-0004.1979.tb00856.x.

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16

Cerruti Mainardi, Paola, Andrea Guala, Guido Pastore, Gloria Pozzo, Franca Dagna Bricarelli, and Mauro Pierluigi. "Psychomotor development in Cri du Chat Syndrome." Clinical Genetics 57, no. 6 (2000): 459–61. http://dx.doi.org/10.1034/j.1399-0004.2000.570612.x.

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17

SOLITARE, G. B. "THE CRI DU CHAT SYNDROME: NEUROPATHOLOGIC OBSERVATIONS*." Journal of Intellectual Disability Research 11, no. 4 (2008): 267–77. http://dx.doi.org/10.1111/j.1365-2788.1967.tb00230.x.

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18

YAMASHITA, MASAO, FUMIO TANIOKA, KAZUO TANIGUCHI, AKITOMO MATSUKI, and TSUTOMU OYAMA. "Anesthetic Considerations in Cri Du Chat Syndrome." Anesthesiology 63, no. 2 (1985): 201–2. http://dx.doi.org/10.1097/00000542-198508000-00017.

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19

Martínez, José E., Cathy M. Tuck-Muller, Duane Superneau, and Wladimir Wertelecki. "Fertility and the cri du chat syndrome." Clinical Genetics 43, no. 4 (1993): 212–14. http://dx.doi.org/10.1111/j.1399-0004.1993.tb04467.x.

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20

Taylor, W. G., and A. S. McIntosh. "A case of Cri du chat syndrome." International Journal of Clinical Practice 44, no. 10 (1990): 424–25. http://dx.doi.org/10.1111/j.1742-1241.1990.tb10885.x.

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21

Chutanova, Aziza Abdullaivna, and Shahzoda Fayzulloevna Mukhiddinova. "Albinism, Cri Du Chat Syndrome, And Reilly Syndrome (CIPA): Features, Genetics, Diagnosis, And Treatment." European International Journal of Multidisciplinary Research and Management Studies 5, no. 5 (2025): 44–48. https://doi.org/10.55640/eijmrms-05-05-10.

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This article discusses three rare genetic diseases — albinism, Cri du Chat syndrome, and Reilly syndrome (congenital insensitivity to pain with anhidrosis). Their main clinical manifestations, diagnostic methods, features of genetic transmission, and modern approaches to treatment are described. An overview of the impact of these diseases on the quality of life of patients and the prospects for medical care is presented.

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22

Sykes, Stewart C., and Margarette A. Christie. "The Cri-Du-Chat Syndrome: A Case Study." Australia and New Zealand Journal of Developmental Disabilities 13, no. 1 (1987): 21–28. http://dx.doi.org/10.3109/13668258708998651.

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23

Aoki, S., T. Hata, K. Hata, and K. Miyazaki. "Antenatal sonographic features of cri-du-chat syndrome." Ultrasound in Obstetrics and Gynecology 13, no. 3 (1999): 216–17. http://dx.doi.org/10.1046/j.1469-0705.1999.13030216.x.

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24

Berger, K., G. Touati, J. Derre, M. A. Ortiz, and J. Martinetti. "“Cri du chat” syndrome with maternal insertional translocation." Clinical Genetics 5, no. 5 (2008): 428–32. http://dx.doi.org/10.1111/j.1399-0004.1974.tb01716.x.

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25

Olivella, Alberto, Hernan Manotas, César Payán-Gómez, and Juan Gabriel Piñeros. "Ebstein anomaly associated with cri du chat (cat’s cry) syndrome and 20q duplication." BMJ Case Reports 13, no. 6 (2020): e233766. http://dx.doi.org/10.1136/bcr-2019-233766.

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Ebstein anomaly is a congenital heart defect with a low prevalence and high mortality in the early stages of life. In medical literature, there is no reported association between Ebstein anomaly and cri du chat syndrome. Here, we report the case of a full-term newborn with a low weight for his age and who had a prenatal diagnosis of Ebstein anomaly and a postnatal diagnosis of cri du chat syndrome and 20q duplication detected on array CGH. The patient required medical treatment with inotropic support, high-frequency ventilation and nitric oxide, with an adequate response. Surgical intervention

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26

Ladekarl, Søren. "COMBINATION OF GOLDENHAR'S SYNDROME WITH THE CRI-DU-CHAT SYNDROME." Acta Ophthalmologica 46, no. 3 (2009): 605–10. http://dx.doi.org/10.1111/j.1755-3768.1968.tb02857.x.

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27

Kodra, Yllka, Marianna Cavazza, Marta de Santis, et al. "Social Economic Costs, Health-Related Quality of Life and Disability in Patients with Cri Du Chat Syndrome." International Journal of Environmental Research and Public Health 17, no. 16 (2020): 5951. http://dx.doi.org/10.3390/ijerph17165951.

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Background: Cri du Chat syndrome (CdC) is a rare disease caused by the deletion on the short arm of the chromosome 5, with an incidence of 1:15,000 to 1:50,000 live-born infants. No study at international level has assessed the costs, Quality of Life (QoL) and Disability through standardized quantitative tools. The aim is to estimate economic costs related to CdC from a societal perspective, to assess the QoL and Disability in patients with CdC along with their caregivers in Italy. Methods: A cross-sectional study of patients with Cri du Chat in Italy was carried out. A cost of illness approac

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28

Hong, Jin Ho, Ha Young Lee, Myung Kwan Lim, et al. "Brain Stem Hypoplasia Associated with Cri-du-Chat Syndrome." Korean Journal of Radiology 14, no. 6 (2013): 960. http://dx.doi.org/10.3348/kjr.2013.14.6.960.

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29

Srivastava, ViviM, HarshaM Dangare, SamuelP Oommen, et al. "Cri du chat syndrome: A series of five cases." Indian Journal of Pathology and Microbiology 55, no. 4 (2012): 501. http://dx.doi.org/10.4103/0377-4929.107791.

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30

Da Silva Oliveira, Manuela, Gabriela Sena De Andrade, Iandra Luah Souza Maia, et al. "DENTAL TREATMENT IN CRI-DU-CHAT SYNDROME: CASE REPORT." Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology 134, no. 3 (2022): e129. http://dx.doi.org/10.1016/j.oooo.2022.01.264.

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31

Kristoffersen, Kristian E., Nina Gram Garmann, and Hanne Gram Simonsen. "Consonant production and intelligibility in cri du chat syndrome." Clinical Linguistics & Phonetics 28, no. 10 (2014): 769–84. http://dx.doi.org/10.3109/02699206.2014.904442.

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32

Pituch, Keenan A., Vanessa A. Green, Robert Didden, et al. "Educational Priorities for Children with Cri-Du-Chat Syndrome." Journal of Developmental and Physical Disabilities 22, no. 1 (2009): 65–81. http://dx.doi.org/10.1007/s10882-009-9172-6.

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33

Bakkum, Jamie N., William J. Watson, Keith L. Johansen, and Brian C. Brost. "Prenatal Diagnosis of Cri Du Chat Syndrome with Encephalocele." American Journal of Perinatology 22, no. 07 (2005): 351–52. http://dx.doi.org/10.1055/s-2005-871656.

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34

Honjo, R. S., C. B. Mello, L. S. E. Pimenta, et al. "Cri du Chat syndrome: Characteristics of 73 Brazilian patients." Journal of Intellectual Disability Research 62, no. 6 (2018): 467–73. http://dx.doi.org/10.1111/jir.12476.

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35

Kristoffersen, Kristian Emil. "Consonants in Cri du chat syndrome: A case study." Journal of Communication Disorders 41, no. 3 (2008): 179–202. http://dx.doi.org/10.1016/j.jcomdis.2007.08.002.

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36

Vignetti, P., Luciana Chessa, Lida Bruni, E. Ferrante, and B. Dallapiccola. "Translocation Y/5 resulting in Cri du Chat syndrome." Clinical Genetics 12, no. 6 (2008): 319–22. http://dx.doi.org/10.1111/j.1399-0004.1977.tb00949.x.

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37

Cornish, K. M., and J. Pigram. "Developmental and behavioural characteristics of cri du chat syndrome." Archives of Disease in Childhood 75, no. 5 (1996): 448–50. http://dx.doi.org/10.1136/adc.75.5.448.

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38

Van Buggenhout, G. J. C. M., E. Pijkels, M. Holvoet, C. Schaap, B. C. J. Hamel, and J. P. Fryns. "Cri du chat syndrome: Changing phenotype in older patients." American Journal of Medical Genetics 90, no. 3 (2000): 203–15. http://dx.doi.org/10.1002/(sici)1096-8628(20000131)90:3<203::aid-ajmg5>3.0.co;2-a.

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39

Farag, Talaat I., Sadika A. Al-Awadi, Makia J. Marafie, et al. "Clustering of cri du chat syndrome among the Bedouins." American Journal of Medical Genetics 46, no. 3 (1993): 347–48. http://dx.doi.org/10.1002/ajmg.1320460323.

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40

Choong, Yee Fong, Patrick Watts, Elizabeth Little, and Lyn Beck. "Goldenhar and Cri-du-Chat syndromes: a contiguous gene deletion syndrome?" Journal of American Association for Pediatric Ophthalmology and Strabismus 7, no. 3 (2003): 226–27. http://dx.doi.org/10.1016/s1091-8531(02)42019-8.

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41

Cesaityte, Karina, and Danielius Serapinas. "The spectrum of microdeletian syndromes at the hospital of Lithuanian university of health sciences." Genetika 48, no. 3 (2016): 859–66. http://dx.doi.org/10.2298/gensr1603859c.

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Microdeletion syndrome is a rare condition which can be diagnosed by fluorescent in situ hybridization (FISH) method. We analyzed microdeletion syndromes cases during ten years period (2005-2015) at The Hospital of Lithuanian University of Health Sciences. We report 2 patients with Prader-Willi syndrome, 2 patients with Smith-Magenis syndrome, 1 patient with Angelman syndrome and 1 patient with Cri du Chat syndrome. All syndromes were confirmed by FISH. These cases contain mainly data about phenotype abnormalities and clinical symptoms.

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42

Kamyk - Wawryszuk, Agnieszka. "Prewerbalne zachowania komunikacyjne dzieci z zespołem Cri du Chat w ocenie rodziców." Interdyscyplinarne Konteksty Pedagogiki Specjalnej, no. 21 (January 7, 2019): 143–66. http://dx.doi.org/10.14746/ikps.2018.21.08.

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Cri du Chat syndrome (CdC) is a rare disease characterized, among others, by decreased muscle tone, microcephaly, and high palate; underdevelopment of the mandible, abnormal structure and laryngeal function (somatic symptoms) and disorders of psychomotor development and intellectual disability (psychomotor symptoms). These children have a varied level of functioning and most of them do not use verbal speech. Describing the problem of preverbal communication behaviors, the following elements were taken into account: the level of behavior in the primary communication, sensory, auditory communica

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43

Kristoffersen, Kristian Emil. "Inflectional morphology in cri du chat syndrome – A case study." Clinical Linguistics & Phonetics 26, no. 2 (2011): 120–34. http://dx.doi.org/10.3109/02699206.2011.595524.

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44

Li, Dong-Zhi, and Cui-Xing Yi. "Prenatal diagnosis of Cri du Chat syndrome: four cases report." Journal of Maternal-Fetal & Neonatal Medicine 25, no. 12 (2012): 2799. http://dx.doi.org/10.3109/14767058.2012.704452.

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45

Davis, Catherine, Jonathan Grischkan, and Joseph D. Tobias. "Perioperative Care of a Child With Cri Du Chat Syndrome." Journal of Medical Cases 11, no. 9 (2020): 279–82. http://dx.doi.org/10.14740/jmc3494.

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46

Han, Insoo, Yee-Suk Kim, and Sang-Wook Kim. "Anesthetic experience of a patient with cri du chat syndrome." Korean Journal of Anesthesiology 65, no. 5 (2013): 482. http://dx.doi.org/10.4097/kjae.2013.65.5.482.

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47

Boraz, Robert A. "Cri-du-chat syndrome: dental considerations and report of case." Special Care in Dentistry 10, no. 1 (1990): 13–15. http://dx.doi.org/10.1111/j.1754-4505.1990.tb01080.x.

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48

BRISLIN, ROBERT P., STEPHEN A. STAYER, and ROY E. SCHWARTZ. "Anaesthetic considerations for the patient with cri du chat syndrome." Pediatric Anesthesia 5, no. 2 (1995): 139–41. http://dx.doi.org/10.1111/j.1460-9592.1995.tb00262.x.

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49

Virbalas, Jordan M., Gina Palma, and Melin Tan. "Obstacles to Communication in Children With Cri du Chat Syndrome." Journal of Voice 26, no. 6 (2012): 821.e1–821.e3. http://dx.doi.org/10.1016/j.jvoice.2012.06.005.

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50

Arisaka, Hirofumi, Shigeki Sakuraba, Masanao Matsumoto, et al. "Airway evaluation by CT imaging for cri-du-chat syndrome." Journal of Anesthesia 20, no. 3 (2006): 258–59. http://dx.doi.org/10.1007/s00540-006-0408-7.

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