Diagnostic Considerations

These include the following:

Mental retardation syndromes
Multiple congenital anomalies
Other autosomal monosomy and trisomy syndromes

Differential Diagnoses

Workup

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Correa T, Feltes BC, Riegel M. Integrated analysis of the critical region 5p15.3-p15.2 associated with cri-du-chat syndrome. Genet Mol Biol. 2019 Apr 11. [QxMD MEDLINE Link]. [Full Text].
Robinson WP, Dutly F, Nicholls RD, et al. The mechanisms involved in formation of deletions and duplications of 15q11-q13. J Med Genet. 1998 Feb. 35(2):130-6. [QxMD MEDLINE Link]. [Full Text].
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Media Gallery

Infant with cri-du-chat syndrome. Note the round face with full cheeks, hypertelorism, epicanthal folds, and apparently low-set ears.
Child with cri-du-chat syndrome. Note the hypertonicity, small and narrow face, dropped jaw, and open-mouth expression secondary to facial laxity.
Fluorescent in situ hybridization (FISH) study of a patient with cri-du-chat syndrome. FISH photograph shows deletion of a locus-specific probe for the cri-du-chat region. Spectrum orange color represents chromosome 5–specific signal and spectrum green is cri-du-chat locus signal. Absence of a green signal indicates monosomy for that region (left, interphase cell; right, metaphase chromosome spread).
G-banded karyotype [46,XX,del(5)(p13)].
G-banded karyotype of a carrier father [46,XY,t(5;17)(p13.3;p13)].

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Author

Mithilesh Kumar Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK) Consultant Neonatologist, Clinical Director for Neonatal Services, Associate Medical Director (Revalidation), The James Cook University Hospital, South Tees Foundation NHS Trust; UK Chair, Theory MRCPCH Exams, Senior Clinical MRCPCH Examiner, Royal College of Pediatrics and Child Health (UK)

Mithilesh Kumar Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK) is a member of the following medical societies: American Pediatric Society, Society for Pediatric Research, British Association of Perinatal Medicine, British Medical Association, Neonatal Society, Nepal Medical Association, Royal College of Paediatrics and Child Health, Royal College of Physicians

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, Louisiana State University Medical Center

Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics

Disclosure: Nothing to disclose.

David Flannery, MD, FAAP, FACMG Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia

David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Sections Cri-du-chat Syndrome
Overview
Presentation
- History
- Physical
- Causes
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DDx
Workup
Treatment
Medication
Follow-up
Media Gallery
References

Cri-du-chat Syndrome Differential Diagnoses

Diagnostic Considerations

Differential Diagnoses

References

Tables

Contributor Information and Disclosures

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