Research & Literature

δ-Catenin Regulates Spine Architecture via Cadherin and PDZ-dependent Interactions.

Yuan L, Seong E, Beuscher JL, Arikkath J

The Journal of biological chemistry 2015; (290(17)):10947-57 doi:10.1074/jbc.M114.632679.

Peters anomaly in cri-du-chat syndrome.

Hope WC, Cordovez JA, Capasso JE, et al.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2015; (19(3)):277-9.

A systematic review of the oral and craniofacial manifestations of cri du chat syndrome.

Corcuera-Flores JR, Casttellanos-Cosano L, Torres-Lagares D, et al.

Clinical anatomy (New York, N.Y.) 2016; (29(5)):555-60 doi:10.1002/ca.22654.

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

Zhang B, Willing M, Grange DK, et al.

American journal of medical genetics. Part A 2016; (170(3)):583-93 doi:10.1002/ajmg.a.37445.

Protein-energy malnutrition is frequent and precocious in children with cri du chat syndrome.

Lefranc V, de Luca A, Hankard R

American journal of medical genetics. Part A 2016; (170A(5)):1358-62 doi:10.1002/ajmg.a.37597.

[Improved identification for 5p deletion syndrome and partial trisomy 11q presented in a fetus by SNP array].

Shi S, Pan G, Yang Y, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2016; (33(2)):195-9 doi:10.3760/cma.j.issn.1003-9406.2016.02.015.

Positive Behavior Support for Individuals with Behavior Challenges.

Hieneman M

Behavior analysis in practice 2015; (8(1)):101-108 doi:10.1007/s40617-015-0051-6.

Pontine hypoplasia in cri-du-chat syndrome: alterations in diffusion tensor imaging.

Corrêa DG, Ventura N, Gasparetto EL

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2017; (33(8)):1241-1242 doi:10.1007/s00381-017-3508-9.

[Genetic analysis of a case with atypical neonatal Cri-du-chat syndrome].

He W, Chen H, Mu H, Li J

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018; (35(1)):104-106 doi:10.3760/cma.j.issn.1003-9406.2018.01.024.

Cri du Chat syndrome: Characteristics of 73 Brazilian patients.

Honjo RS, Mello CB, Pimenta LSE, et al.

Journal of intellectual disability research : JIDR 2018; (62(6)):467-473 doi:10.1111/jir.12476.

Mental Health and Well-Being in Mothers of Children With Rare Genetic Syndromes Showing Chronic Challenging Behavior: A Cross-Sectional and Longitudinal Study.

Adams D, Clarke S, Griffith G, et al.

American journal on intellectual and developmental disabilities 2018; (123(3)):241-253 doi:10.1352/1944-7558-123.3.241.

Effects of Oral Stimulation Intervention in Newborn Babies with Cri du Chat Syndrome: Single-Subject Research Design.

Kim MK, Kim DJ

Occupational therapy international 2018; (2018()):6573508 doi:10.1155/2018/6573508.

The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort.

Sanders CD, Leigh MW, Chao KC, et al.

Pediatric pulmonology 2018; (53(11)):1565-1573 doi:10.1002/ppul.24159.

Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome.

Piovani G, Lanzi G, Ferraro RM, et al.

Stem cell research 2019; (35()):101393 doi:10.1016/j.scr.2019.101393.

Children and adults affected by Cri du Chat syndrome: Care's recommendations.

Liverani ME, Spano A, Danesino C, et al.

Pediatric reports 2019; (11(1)):7839 doi:10.4081/pr.2019.7839.

Prenatal diagnosis of 5p deletion syndrome: Report of five cases.

Mak ASL, Ma TWL, Chan KYK, et al.

The journal of obstetrics and gynaecology research 2019; (45(4)):923-926 doi:10.1111/jog.13911.

Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study.

Cochran L, Welham A, Oliver C, et al.

Journal of autism and developmental disorders 2019; (49(6)):2476-2487 doi:10.1007/s10803-019-03966-6.

Prenatal Diagnosis of 5p Deletion Syndrome with Brain Abnormalities by Ultrasonography and Fetal Magnetic Resonance Imaging: A Case Report.

Kaymak D, Alpay V, Erenel H, et al.

Fetal and pediatric pathology 2020; (39(5)):446-451 doi:10.1080/15513815.2019.1669230.

Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry.

Chehimi SN, Zanardo ÉA, Ceroni JRM, et al.

Molecular genetics & genomic medicine 2020; (8(2)):e957 doi:10.1002/mgg3.957.

A child with autism, behavioral issues, and dysmorphic features found to have a tandem duplication within CTNND2 by mate-pair sequencing.

Miller DE, Squire A, Bennett JT

American journal of medical genetics. Part A 2020; (182(3)):543-547 doi:10.1002/ajmg.a.61442.

Difficult intubation caused by an immature upper airway in a patient with cri-du-chat syndrome: a case report.

So E, Kim S

Journal of dental anesthesia and pain medicine 2020; (20(1)):49-53 doi:10.17245/jdapm.2020.20.1.49.

Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication.

Olivella A, Manotas H, Payán-Gómez C, Piñeros JG

BMJ case reports 2020; (13(6)) doi:10.1136/bcr-2019-233766.

Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome.

Peng Y, Pang J, Hu J, et al.

Molecular genetics & genomic medicine 2020; (8(8)):e1312 doi:10.1002/mgg3.1312.

Do we need to go beyond a purely behavioral approach? A response to Woodcock and Blackwell.

Tincani M, Travers J, Dowdy A

Current opinion in psychiatry 2020; (33(5)):509-511 doi:10.1097/YCO.0000000000000633.

Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents.

Alkaya DU, Karaman B, Tüysüz B

Molecular syndromology 2020; (11(2)):97-103 doi:10.1159/000506892.

Social Economic Costs, Health-Related Quality of Life and Disability in Patients with Cri Du Chat Syndrome.

Kodra Y, Cavazza M, de Santis M, et al.

International journal of environmental research and public health 2020; (17(16)) doi:10.3390/ijerph17165951.

Retinopathy in a Full-Term Infant with Cri-du-Chat Syndrome.

Chhaya N, Chan T

Rhode Island medical journal (2013) 2021; (104(1)):37-39.

Dysphagia in Older Adults.

Thiyagalingam S, Kulinski AE, Thorsteinsdottir B, et al.

Mayo Clinic proceedings 2021; (96(2)):488-497 doi:10.1016/j.mayocp.2020.08.001.

Prenatal diagnosis of Cri-du-Chat syndrome with concomitant distal trisomy 10q syndrome in one fetus with ultrasound anomalies.

He JP, Qian Y, Liu WJ, et al.

Taiwanese journal of obstetrics & gynecology 2021; (60(2)):318-323 doi:10.1016/j.tjog.2021.01.010.

The general movements assessment and effects of an early intervention in an infant with Cri du chat syndrome: a case report.

Yardımcı-Lokmanoğlu BN, Mutlu A, Livanelioğlu A, Haliloğlu G

The Turkish journal of pediatrics 2021; (63(1)):167-173.

Augmentative and Alternative Communication for Children with Intellectual and Developmental Disability: A Mega-Review of the Literature.

Crowe B, Machalicek W, Wei Q, et al.

Journal of developmental and physical disabilities 2022; (34(1)):1-42 doi:10.1007/s10882-021-09790-0.

18F-FDG PET brain findings in disease-discordant monozygotic mosaic twins with Cri du Chat (5p-) syndrome.

Cistaro A, Schiera IG, Fania P, et al.

Neurocase 2021; (27(3)):319-322 doi:10.1080/13554794.2021.1957118.

Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.

Nevado J, Bel-Fenellós C, Sandoval-Talamantes AK, et al.

Frontiers in genetics 2021; (12()):645595 doi:10.3389/fgene.2021.645595.

Perioperative Care of a Child With Cri Du Chat Syndrome.

Davis C, Grischkan J, Tobias JD

Journal of medical cases 2020; (11(9)):279-282 doi:10.14740/jmc3494.

Tubo-ovarian abscess in a patient with cri du chat syndrome: A case report.

Fujimori M, Kyozuka H, Sugeno M, et al.

Fukushima journal of medical science 2022; (68(1)):57-61 doi:10.5387/fms.2021-31.

Impact of a 12-month multifaceted neurological physiotherapy intervention on gross motor function in women with Rett syndrome.

Kapel A, Kovacic T, Kos N, Velnar T

Journal of integrative neuroscience 2022; (21(2)):59 doi:10.31083/j.jin2102059.

Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome.

Chehimi SN, Almeida VT, Nascimento AM, et al.

Clinics (Sao Paulo, Brazil) 2022; (77()):100045 doi:10.1016/j.clinsp.2022.100045.

Copy Number Variation Analysis of 5p Deletion Provides Accurate Prenatal Diagnosis and Reveals Candidate Pathogenic Genes.

Chu G, Li P, Wen J, et al.

Frontiers in medicine 2022; (9()):883565 doi:10.3389/fmed.2022.883565.

[Brain MRI Findings of the Cri-Du-Chat Syndrome: A Case Report and Summary].

Choi JS, Yoo EA, Choi JO, Kim SJ

Taehan Yongsang Uihakhoe chi 2020; (81(4)):979-984 doi:10.3348/jksr.2020.81.4.979.

Cri du chat syndrome patients have DNA methylation changes in genes linked to symptoms of the disease.

Holland P, Wildhagen M, Istre M, et al.

Clinical epigenetics 2022; (14(1)):128 doi:10.1186/s13148-022-01350-3.

Long-Term Follow-Up on Bilateral Posterior Hypothalamic Deep Brain Stimulation for Treating Refractory Aggressive Behavior in a Patient with Cri du Chat Syndrome: Analysis of Clinical Data, Intraoperative Microdialysis, and Imaging Connectomics.

López Ríos AL, Germann J, Hutchison WD, et al.

Stereotactic and functional neurosurgery 2022; (100(5-6)):275-281 doi:10.1159/000526871.

Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p.

Almeida VT, Chehimi SN, Gasparini Y, et al.

Molecular syndromology 2023; (13(6)):527-536 doi:10.1159/000524371.

An uninformative NIPT as an early indicator of cri-du-chat due to a chromosomal 5;18 translocation-An atypical presentation of a rare cytogenetic phenomenon.

Shukla D, Dinunzio M, Colaiacovo S, et al.

Clinical case reports 2023; (11(8)):e7732 doi:10.1002/ccr3.7732.

Cognitive-Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype-Phenotype Correlationships.

Bel-Fenellós C, Biencinto-López C, Sáenz-Rico B, et al.

Genes 2023; (14(8)) doi:10.3390/genes14081628.

Cri-Du-Chat Syndrome - A Rare Case Report.

Dhanasekaran B, Srinivasan R, Kanagamuthu P, et al.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India 2023; (75(4)):3993-3998 doi:10.1007/s12070-023-04039-y.

Multiple Approaches of Neuro-Physiotherapy Used for Improving Balance, Normalizing Tone, and Gait Training in a Child With Ataxic Cerebral Palsy: A Case Report.

Upganlawar DS, Samal S, Koul P, Kapre JP

Cureus 2023; (15(12)):e50264 doi:10.7759/cureus.50264.

[Neonatal cri-du-chat syndrome revelead by facial dysmorphism and weak suction: a case report].

Bouh AH, Nejjari M, Hassan AO, et al.

The Pan African medical journal 2023; (46()):109 doi:10.11604/pamj.2023.46.109.42239.

Clinical outcomes before and after videofluoroscopic swallow study in children 24 months of age or younger.

Barth FL, Levy DS, Gasparin M, et al.

Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia 2024; (50(1)):e20230290 doi:10.36416/1806-3756/e20230290.

The relationship between vocabulary and grammar in two children with 5p deletion syndrome.

Kristoffersen KE, Simonsen HG

Clinical linguistics & phonetics 2025; (39(6-8)):704-720 doi:10.1080/02699206.2024.2359461.

Pleomorphic Parotid Adenoma in a Child Affected with Cri du Chat Syndrome: Clinical, Cytogenetic, and Molecular Analysis.

Danesino C, Biglioli F, Moneghini L, et al.

International journal of molecular sciences 2024; (25(19)) doi:10.3390/ijms251910664.

Case Report: An association of left ventricular outflow tract obstruction with 5p deletions.

Mascho K, Yatsenko SA, Lo CW, et al.

Frontiers in genetics 2024; (15()):1451746 doi:10.3389/fgene.2024.1451746.

Laryngeal Findings in a 20-Month-Old With Cri du Chat Syndrome.

Braunstein D, Jones H, Heffernan C

The Laryngoscope 2025; (135(5)):1774-1776 doi:10.1002/lary.31941.

Enhancing Communication and Swallowing Skills in Children with Cri Du Chat Syndrome: A Comprehensive Speech Therapy Guide.

Papadopoulou S, Anagnostopoulou A, Katsarou DV, et al.

Children (Basel, Switzerland) 2024; (11(12)) doi:10.3390/children11121526.

Roles and regulation of δ-catenin in tumorigenesis and neuronal diseases.

Zhang Y, Xie K, Jiang T

Frontiers in cell and developmental biology 2025; (13()):1559059 doi:10.3389/fcell.2025.1559059.

Clinical features and genetic analysis of a family with t(5;9) (p15;p24) balanced translocation leading to Cri-du-chat syndrome in offspring.

Zhao J, Chen P, Ren Y, et al.

Frontiers in genetics 2025; (16()):1550937 doi:10.3389/fgene.2025.1550937.

Advancing Genotype-Phenotype Analysis through 3D Facial Morphometry: Insights from Cri-du-Chat Syndrome.

Vanneste M, Matthews H, Sleyp Y, et al.

medRxiv : the preprint server for health sciences 2025; doi:10.1101/2025.06.01.25327945.

Identifying and Describing Best Clinical Practices for Children and Adolescents With Complex Communication Needs: A Scoping Review of Healthcare-Based Interventions.

Resina P, Mezzatesta M, Elias N, et al.

Journal of intellectual disability research : JIDR 2025; (69(10)):1081-1096 doi:10.1111/jir.70022.

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.

Shahsavani M, Wincent J, Reiter R, et al.

Research square 2025; doi:10.21203/rs.3.rs-8224288/v1.

A Review of Management Strategies for Aggression and Self-Injury in Youth With Autism Spectrum Disorder.

Taniguchi E, Kim SJ

Pediatric annals 2026; (55(2)):e71-e75 doi:10.3928/19382359-20251112-02.