eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics
Cri-du-chat Syndrome: Differential Diagnoses & Workup
Updated: May 13, 2009
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
- Multimedia
Differential Diagnoses
Patau Syndrome
Wolf-Hirschhorn Syndrome
Other Problems to Be Considered
Mental retardation syndromes
Multiple congenital anomalies
Other autosomal monosomy and trisomy syndromes
Workup
Laboratory Studies
- Conventional cytogenetic studies: The size of the 5p deletion may vary from the entire short arm to only 5p15. A small deletion of 5p may be missed using a conventional cytogenetic technique.
- High-resolution cytogenetic studies: Look for a small deletion of 5p.
- Fluorescence in situ hybridization (FISH)
- Molecular cytogenetic studies using FISH allow the diagnosis to be made in patients with very small deletions. FISH uses genetic markers that have been precisely localized to the area of interest.
- The absence of a fluorescent signal from either the maternal or paternal chromosome 5p regions indicates monosomy for that chromosomal region.
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).
- Chromosome comparative genomic hybridization (CGH)
- Chromosome CGH is capable of screening the entire genome for DNA copy-number alterations in a single hybridization.
- The resolution is limited to approximately 5-10 Mb.
- The results cannot be directly mapped onto the genome sequence.
- Microarray CGH
- Microarray CGH uses array elements made from large-insert genomic clones, such as BACs and phage artificial chromosomes (PACs).
- This method has sufficient measurement precision to permit reliable detection of single-copy aberrations affecting individual clones.
Imaging Studies
- Skeletal radiography
- Microcephaly, retromicrognathia
- Cranial base malformations (reduced cranial base angle and malformed sella turcica and clivus)
- Disproportionately short third, fourth, and fifth metacarpals and disproportionately long second, third, fourth, and fifth proximal phalanges (common)
- MRI
- Atrophy of the brainstem, atrophic middle cerebellar peduncles and cerebellar white matter
- Possible hypoplasia of cerebellar vermis with enlargement of the cisterna magna and fourth ventricle
- Echocardiography - Used to rule out structural cardiac malformations
Other Tests
- Swallowing study to assess for feeding difficulty
- Comprehensive evaluation for receptive and expressive language (Most children have better receptive language than expressive language.)
- Developmental testing, referral to early intervention, and appropriate school placement
Procedures
- Gastrostomy in infancy to protect the airway in patients with major feeding difficulties
More on Cri-du-chat Syndrome |
| Overview: Cri-du-chat Syndrome |
 Differential Diagnoses & Workup: Cri-du-chat Syndrome |
| Treatment & Medication: Cri-du-chat Syndrome |
| Follow-up: Cri-du-chat Syndrome |
| Multimedia: Cri-du-chat Syndrome |
| References |
| Further Reading |
| « Previous Page | Next Page » |
References
LeJeune J. [Role of cytogenetics in the study of neoplastic processes]. Rev Prat. Dec 9 1963;13:SUPPL 21-3. [Medline].
Overhauser J, Huang X, Gersh M, et al. Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. Hum Mol Genet. Feb 1994;3(2):247-52. [Medline].
Gersh M, Goodart SA, Pasztor LM, et al. Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. Am J Hum Genet. Jun 1995;56(6):1404-10. [Medline].
Goodart SA, Simmons AD, Grady D, et al. A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome. Genomics. Nov 1 1994;24(1):63-8. [Medline].
Church DM, Bengtsson U, Nielsen KV, Wasmuth JJ, Niebuhr E. Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. Am J Hum Genet. May 1995;56(5):1162-72. [Medline].
Cornish KM, Cross G, Green A, Willatt L, Bradshaw JM. A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis. J Med Genet. Jul 1999;36(7):567-70. [Medline]. [Full Text].
Swanepoel D. Auditory pathology in cri-du-chat (5p-) syndrome: phenotypic evidence for auditory neuropathy. Clin Genet. Oct 2007;72(4):369-73. [Medline].
Niebuhr E. The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet. Nov 16 1978;44(3):227-75. [Medline].
Robinson WP, Dutly F, Nicholls RD, et al. The mechanisms involved in formation of deletions and duplications of 15q11-q13. J Med Genet. Feb 1998;35(2):130-6. [Medline].
Perfumo C, Cerruti Mainardi P, Cali A, et al. The first three mosaic cri du chat syndrome patients with two rearranged cell lines. J Med Genet. Dec 2000;37(12):967-72. [Medline].
Pizzamiglio MR, Nasti M, Piccardi L, Vitturini C, Morelli D, Guariglia C. Visual-motor coordination computerized training improves the visuo-spatial performance in a child affected by Cri-du-Chat syndrome. Int J Rehabil Res. Jun 2008;31(2):151-4. [Medline].
Mainardi PC, Call A, Guala A, et al. Phenotype-genotype correlation in 7 patients with 5p/autosome translocations. Risk for carriers of translocations involving 5p. Am J Hum Genet. 2000;A753:145.
Torun D, Bahce M, Alanbay I, Guran S, Baser I. Prenatal diagnosis of Cri-du chat syndrome following high maternal serum human chorionic gonodotrophin and choroid plexus cysts. Prenat Diagn. Feb 10 2009;[Medline].
Overhauser J, McMahon J, Oberlender S, et al. Parental origin of chromosome 5 deletions in the cri-du-chat syndrome. Am J Med Genet. Sep 1990;37(1):83-6. [Medline].
Brislin RP, Stayer SA, Schwartz RE. Anaesthetic considerations for the patient with cri du chat syndrome. Paediatr Anaesth. 1995;5(2):139-41. [Medline].
Cerruti Mainardi P. Cri du Chat syndrome. Orphanet J Rare Dis. Sep 5 2006;1:33. [Medline]. [Full Text].
Chen CC, Lee CC, Chang TY, Town DD, Wang W. Prenatal diagnosis of mosaic distal 5p deletion and review of the literature. Prenat Diagn. Jan 2004;24(1):50-7. [Medline].
Chen H. Cri-du-chat syndrome. In: Atlas of Genetic Diagnosis and Counseling. Totowa, New Jersey: Humana Press; 2006:256-260.
Cordier AG, Braidy C, Levaillant JM, et al. Correlation between ultrasound and pathological examination in a prenatal diagnosis of Cri du Chat syndrome associated with partial trisomy 17q. Prenat Diagn. May 2008;28(5):463-5. [Medline].
Cornish KM, Munir F. Receptive and expressive language skills in children with cri-du-chat syndrome. J Commun Disord. Jan-Feb 1998;31(1):73-80; quiz 80-1. [Medline].
Cornish KM, Pigram J. Developmental and behavioural characteristics of cri du chat syndrome. Arch Dis Child. Nov 1996;75(5):448-50. [Medline].
Dykens EM, Clarke DJ. Correlates of maladaptive behavior in individuals with 5p- (cri du chat) syndrome. Dev Med Child Neurol. Nov 1997;39(11):752-6. [Medline].
Fang JS, Lee KF, Huang CT, et al. Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion. Clin Genet. Jun 2008;73(6):585-90. [Medline].
Fenger K, Niebuhr E. Measurements on hand radiographs from 32 cri-du-chat probands. Radiology. Oct 1978;129(1):137-41. [Medline].
Gersh M, Grady D, Rojas K, et al. Development of diagnostic tools for the analysis of 5p deletions using interphase FISH. Cytogenet Cell Genet. 1997;77(3-4):246-51. [Medline].
Hills C, Moller JH, Finkelstein M, Lohr J, Schimmenti L. Cri du chat syndrome and congenital heart disease: a review of previously reported cases and presentation of an additional 21 cases from the Pediatric Cardiac Care Consortium. Pediatrics. May 2006;117(5):e924-7. [Medline].
Hodapp RM, Wijma CA, Masino LL. Families of children with 5p- (cri du chat) syndrome: familial stress and sibling reactions. Dev Med Child Neurol. Nov 1997;39(11):757-61. [Medline].
Kjaer I, Niebuhr E. Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition. Am J Med Genet. Jan 1 1999;82(1):6-14. [Medline].
Kondoh T, Shimokawa O, Harada N, et al. Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis. J Hum Genet. 2005;50(1):26-9. [Medline].
Mainardi PC, Perfumo C, Cali A, et al. Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet. Mar 2001;38(3):151-8. [Medline]. [Full Text].
Manning KP. The larynx in the cri du chat syndrome. J Laryngol Otol. Oct 1977;91(10):887-92. [Medline].
Martinez JE, Tuck-Muller CM, Superneau D, Wertelecki W. Fertility and the cri du chat syndrome. Clin Genet. Apr 1993;43(4):212-4. [Medline].
Moreira LM, de Carvalho AF, Borja AL, et al. Mosaic cri-du-chat syndrome in a girl with a mild phenotype. J Appl Genet. 2008;49(4):415-20. [Medline].
Mosca AL, Callier P, Leheup B, et al. Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome. Am J Med Genet A. Jun 15 2007;143A(12):1342-7. [Medline].
Moss JF, Oliver C, Berg K, Kaur G, Jephcott L, Cornish K. Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes. Am J Ment Retard. Jul 2008;113(4):278-91. [Medline].
Niebuhr E. The cat cry syndrome (5p-) in adolescents and adults. J Ment Defic Res. Dec 1971;15 Pt 4(0):277-91. [Medline].
Sohner L, Mitchell P. Phonatory and phonetic characteristics of prelinguistic vocal development in cri du chat syndrome. J Commun Disord. Feb 1991;24(1):13-20. [Medline].
South ST, Swensen JJ, Maxwell T, Rope A, Brothman AR, Chen Z. A new genomic mechanism leading to cri-du-chat syndrome. Am J Med Genet A. Dec 15 2006;140(24):2714-20. [Medline].
Wilkins LE, Brown JA, Nance WE, Wolf B. Clinical heterogeneity in 80 home-reared children with cri du chat syndrome. J Pediatr. Apr 1983;102(4):528-33. [Medline].
Wilkins LE, Brown JA, Wolf B. Psychomotor development in 65 home-reared children with cri-du-chat syndrome. J Pediatr. Sep 1980;97(3):401-5. [Medline].
Zhang X, Snijders A, Segraves R, et al. High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. Am J Hum Genet. Feb 2005;76(2):312-26. [Medline].
Further Reading
Guidelines are available for the clinical genetic evaluation of the child with mental retardation or developmental delays.
Keywords
cat cry syndrome, chromosome deletion 5p syndrome, monosomy 5p syndrome, (Bp-), 5p-, partial deletion of chromosome 5p, 5p deletion, 5p monosomy, growth failure, microcephaly, facial abnormalities, mental retardation, catlike cry, mewing cry, laryngeal hypoplasia, floppy epiglottis, small larynx, asymmetric vocal cords, pneumonia, congenital heart defects, respiratory distress syndrome, cri-du-chat syndrome, aneuploidies, feeding problems, failure to thrive, ear infections, cognitive delay, speech delay, motor delay, hyperactivity, self-injurious behavior, hypotonia, hypertelorism, epicanthal folds, down-slanting palpebral fissures, strabismus, down-turned mouth, flat nasal bridge, micrognathia, low-set ears, short fingers, single palmar creases, cardiac defects
cleft lip and palate, preauricular tags, preauricular fistulas, thymic dysplasia, gut malrotation, megacolon, inguinal hernia, dislocated hips, cryptorchidism, hypospadias, renal malformations, clinodactyly of the fifth fingers, talipes equinovarus, pes planus, syndactyly of the second and third fingers and toes, oligosyndactyly, hyperextensible joints, short philtrum, malocclusion of the teeth, scoliosis, short third-fifth metacarpals, transverse flexion creases, distal axial triradius
