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

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Published: 25 July 2021
Last updated: 25 April 2022

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1

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

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2

Rini, Eka Agustia, and R. Trin Suciati. "Cri-du-chat syndrome." Paediatrica Indonesiana 47, no. 3 (July 1, 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. 2,3 Currently,there is no cure for cri-du-chat syndrome. The most successful approach in the management of children with CDCS requires a multidisciplinary team approach. 4 The case presented below will remind us how to reveal, suspect and diagnose Cri-Du-Chat syndrome, a rare case in pediatric.
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3

Gordon, R. R. "The Cri du Chat Syndrome." Developmental Medicine & Child Neurology 7, no. 4 (November 12, 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 (June 28, 2008): 153–57. http://dx.doi.org/10.1111/j.1365-2788.1966.tb00182.x.

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5

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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6

Shiono, Hiroshi, Jun-Ichi Kadowaki, and Hisashi Kazama. "Dermatoglyphics in Cri du Chat syndrome." Clinical Genetics 11, no. 2 (April 23, 2008): 214–18. http://dx.doi.org/10.1111/j.1399-0004.1977.tb01302.x.

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7

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 (November 10, 2014): 1933–38. http://dx.doi.org/10.3892/mmr.2014.2920.

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8

Yáñez-Vico, Rosa-María, Ángela Rodríguez-Caballero, Alejandro Iglesias-Linares, Noelia Guerra-López, Daniel Torres-Lagares, Guillermo Machuca-Portillo, Enrique Solano-Reina, and José-Luis Gutiérrez-Pérez. "Craniofacial characteristics in cri-du-chat syndrome." Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology 110, no. 6 (December 2010): e38-e44. http://dx.doi.org/10.1016/j.tripleo.2010.08.021.

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9

Collins, M. S. R. "Growth study of cri du chat syndrome." Archives of Disease in Childhood 85, no. 4 (October 1, 2001): 337–38. http://dx.doi.org/10.1136/adc.85.4.337.

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10

Gordon, R. R., and Patricia Cooke. "Facial Appearance in Cri du Chat Syndrome." Developmental Medicine & Child Neurology 10, no. 1 (November 12, 2008): 69–76. http://dx.doi.org/10.1111/j.1469-8749.1968.tb02840.x.

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11

Niebuhr, E. "Anthropometry in the Cri du Chat syndrome." Clinical Genetics 16, no. 2 (April 23, 2008): 82–93. http://dx.doi.org/10.1111/j.1399-0004.1979.tb00856.x.

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12

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 (June 2000): 459–61. http://dx.doi.org/10.1034/j.1399-0004.2000.570612.x.

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13

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

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14

YAMASHITA, MASAO, FUMIO TANIOKA, KAZUO TANIGUCHI, AKITOMO MATSUKI, and TSUTOMU OYAMA. "Anesthetic Considerations in Cri Du Chat Syndrome." Anesthesiology 63, no. 2 (August 1, 1985): 201–2. http://dx.doi.org/10.1097/00000542-198508000-00017.

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15

SOLITARE, G. B. "THE CRI DU CHAT SYNDROME: NEUROPATHOLOGIC OBSERVATIONS*." Journal of Intellectual Disability Research 11, no. 4 (June 28, 2008): 267–77. http://dx.doi.org/10.1111/j.1365-2788.1967.tb00230.x.

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16

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 (November 2005): 286–88. http://dx.doi.org/10.1111/j.1754-4505.2005.tb01402.x.

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17

Hope, William C., Jose A. Cordovez, Jenina E. Capasso, Kristin M. Hammersmith, Ralph C. Eagle, Joel Lall-Trail, and Alex V. Levin. "Peters anomaly in cri-du-chat syndrome." Journal of American Association for Pediatric Ophthalmology and Strabismus 19, no. 3 (June 2015): 277–79. http://dx.doi.org/10.1016/j.jaapos.2015.01.018.

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18

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

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19

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 (January 1987): 21–28. http://dx.doi.org/10.3109/13668258708998651.

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20

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 (April 23, 2008): 428–32. http://dx.doi.org/10.1111/j.1399-0004.1974.tb01716.x.

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21

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 (March 1999): 216–17. http://dx.doi.org/10.1046/j.1469-0705.1999.13030216.x.

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22

Ladekarl, Søren. "COMBINATION OF GOLDENHAR'S SYNDROME WITH THE CRI-DU-CHAT SYNDROME." Acta Ophthalmologica 46, no. 3 (May 27, 2009): 605–10. http://dx.doi.org/10.1111/j.1755-3768.1968.tb02857.x.

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23

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 (June 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 was not needed.
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24

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 (April 2014): 769–84. http://dx.doi.org/10.3109/02699206.2014.904442.

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25

Srivastava, ViviM, HarshaM Dangare, SamuelP Oommen, AmishaN Sheth, Beena Koshy, Reeba Roshan, MayaM Thomas, and Sumita Danda. "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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26

Hong, Jin Ho, Ha Young Lee, Myung Kwan Lim, Mi Young Kim, Young Hye Kang, Kyung Hee Lee, and Soon Gu Cho. "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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27

Honjo, R. S., C. B. Mello, L. S. E. Pimenta, E. C. Nuñes-Vaca, L. M. Benedetto, R. B. F. Khoury, D. M. Befi-Lopes, and C. A. Kim. "Cri du Chat syndrome: Characteristics of 73 Brazilian patients." Journal of Intellectual Disability Research 62, no. 6 (February 20, 2018): 467–73. http://dx.doi.org/10.1111/jir.12476.

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28

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 (August 2005): 351–52. http://dx.doi.org/10.1055/s-2005-871656.

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29

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 (April 23, 2008): 319–22. http://dx.doi.org/10.1111/j.1399-0004.1977.tb00949.x.

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30

Farag, Talaat I., Sadika A. Al-Awadi, Makia J. Marafie, Laila Bastaki, D. S. Krishna Murthy, Sulaiman A. Al-Othman, Fawziyah M. Mohamed, et al. "Clustering of cri du chat syndrome among the Bedouins." American Journal of Medical Genetics 46, no. 3 (May 15, 1993): 347–48. http://dx.doi.org/10.1002/ajmg.1320460323.

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31

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 (January 31, 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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32

Cornish, K. M., and J. Pigram. "Developmental and behavioural characteristics of cri du chat syndrome." Archives of Disease in Childhood 75, no. 5 (November 1, 1996): 448–50. http://dx.doi.org/10.1136/adc.75.5.448.

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33

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

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34

Pituch, Keenan A., Vanessa A. Green, Robert Didden, Lisa Whittle, Mark F. O’Reilly, Giulio E. Lancioni, and Jeff Sigafoos. "Educational Priorities for Children with Cri-Du-Chat Syndrome." Journal of Developmental and Physical Disabilities 22, no. 1 (November 26, 2009): 65–81. http://dx.doi.org/10.1007/s10882-009-9172-6.

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35

Kodra, Yllka, Marianna Cavazza, Marta de Santis, Andrea Guala, Maria-Elena Liverani, Patrizio Armeni, Maura Masini, and Domenica Taruscio. "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 (August 17, 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 approach from a societal perspective was used to estimate cost, and a micro-costing method was adopted. The QoL was measured with EuroQol 5-domain (EQ-5D) questionnaire and Disability by using World Health Organization Disability Assessment Schedule 36 item (WHODAS 2.0). Results: A total of 76 questionnaires were collected from caregivers taking care of 40 adult patients and 36 minor patients. All patients need a carer and the principal caregiver is commonly informal carer or a family member (93%). The EQ-5D VAS score for patients is 65.5 (SD = 22.4) out of 100; while the most important compromised areas of QoL are usual activities and self-care. The overall WHODAS 2.0 score is 65% (0 = no disability; 100 = full disability). The average annual cost of a patient with Cri du Chat in our population is €87,856.24; the main cost item of patients with Cri du Chat syndrome is informal care (i.e., €76,981.69 yearly) since it constitutes the 87% of total costs. Results highlight the burden of CdC in terms of its impact on QoL and Disability for patients and caregivers in Italy, with a score much lower than that of general population. The disease is associated with considerable costs of informal care. Conclusions: Cri du Chat syndrome was found to be linked with a significant socioeconomic impact which is dominated by direct non-healthcare informal costs.
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36

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 (June 2003): 226–27. http://dx.doi.org/10.1016/s1091-8531(02)42019-8.

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37

Kristoffersen, Kristian Emil. "Inflectional morphology in cri du chat syndrome – A case study." Clinical Linguistics & Phonetics 26, no. 2 (July 25, 2011): 120–34. http://dx.doi.org/10.3109/02699206.2011.595524.

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38

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 (July 10, 2012): 2799. http://dx.doi.org/10.3109/14767058.2012.704452.

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39

Wium, Kristin, and Kristian Emil Kristoffersen. "Past tense morphology in Cri du chat syndrome: experimental evidence." Clinical Linguistics & Phonetics 22, no. 4-5 (January 2008): 401–6. http://dx.doi.org/10.1080/02699200801919406.

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40

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

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41

Esquivel-Pedraza, Lilly. "Cutaneous and Oral Mucosal Lesions in Cri-du-chat Syndrome." International Journal of Biomedical Engineering and Clinical Science 3, no. 4 (2017): 32. http://dx.doi.org/10.11648/j.ijbecs.20170304.12.

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42

Kim, Sang Kyoon, Hyoung-Seok Kim, and Seung Hyun Kim. "Ocular Findings in Cri Du Chat Syndrome : A Case Report." Journal of the Korean Ophthalmological Society 49, no. 11 (2008): 1867. http://dx.doi.org/10.3341/jkos.2008.49.11.1867.

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43

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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44

Mak, A., T. Ma, K. Chan, A. Kan, H. Y. M. Tang, and K. Leung. "EP07.04: Prenatal diagnosis of Cri-du-Chat syndrome: five cases." Ultrasound in Obstetrics & Gynecology 52 (October 2018): 220–21. http://dx.doi.org/10.1002/uog.19881.

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45

South, Sarah T., Jeffrey J. Swensen, Teresa Maxwell, Alan Rope, Arthur R. Brothman, and Zhong Chen. "A new genomic mechanism leading to cri-du-chat syndrome." American Journal of Medical Genetics Part A 140A, no. 24 (2006): 2714–20. http://dx.doi.org/10.1002/ajmg.a.31496.

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46

Sun, Shunchang C., Fuwei W. Luo, Zhiming M. Zhou, Yunsheng S. Peng, and Huiwen W. Song. "A de novo Chromosomal Abnormality in Cri du Chat Syndrome." Indian Journal of Pediatrics 81, no. 7 (July 31, 2013): 722–25. http://dx.doi.org/10.1007/s12098-013-1134-4.

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47

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 (March 1995): 139–41. http://dx.doi.org/10.1111/j.1460-9592.1995.tb00262.x.

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48

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

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49

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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50

Romano, Corrado, Rosa Maria Ragusa, Franco Scillato, Donatella Greco, Giuseppe Amato, and Cosimo Barletta. "Phenotypic and phoniatric findings in mosaic cri du chat syndrome." American Journal of Medical Genetics 39, no. 4 (June 15, 1991): 391–95. http://dx.doi.org/10.1002/ajmg.1320390405.

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