31 Cri-du-chat Syndrome
Cri-du-chat Syndrome 667
Cat-cry syndrome, del(5p) syndrome
Microcephaly, round face, hypertelorism, micrognathia, cat-like cry, mental retardation
Frequency: Between 1 in 20,000 and 1 in 50,000 live births; 1% among profoundly retarded patients.
Genetics
Deletion of the short arm of chromosome 5; 90% de novo deletion, mostly paternal in origin; the 2-Mb critical region maps to 5p15.2; cry/speech maps to 5p15.3 (OMIM 123450).
Clinical Features: Newborns
• Low birth weight (less than 2.5 kg)
• Microcephaly, round face
• Hypertelorism, downward slant of palpebral fis- sures, epicanthal folds, strabismus
• Depressed nasal bridge
• Micrognathia
• Low-set, poorly formed ears
• Short neck
• Cat-like cry
• Mental deficiency
• Heart defect
• Simian crease
Clinical Features: Adults
• Microcephaly
• Premature graying of hair
• Thin asymmetrical face, prominent nasal bridge
• Dental malocclusion, macrostomia, prognathism
• Inguinal hernia, diastasis recti
• Flat feet
Differential Diagnosis
• Other chromosome imbalances
Radiographic Features Skull
• Microcephaly
• Reduced cranial base angle in cases with terminal deletions
• Hypertelorism
• Micrognathia
• Obtuse mandibular angle Spine
• Kyphoscoliosis
• Vertebral anomalies Pelvis
• Small iliac wings, increased iliac angle
• Hip dislocation Extremities
• Short metacarpals/metatarsals
• Clinodactyly of 5th fingers
• Talipes
C
Fig. 31.1. aPatient 1,age 18 months.
Microcephaly, round face, hyper- telorism, downward slanted pal- pebral fissures. (Reprinted, with permission, from Dallapiccola and Pistocchi 1972) b Patient 2, age 10 years. Microcephaly, round asymmetrical face, prominent nasal bridge, hypertelorism, up- ward slanted palpebral fissures
a b
Fig. 31.2 a–d. Harmonic microcephaly, with cranial theca of uniform thickness and smooth internal border; hyper- telorism; and mild micrognathia, with increased mandibular
angle, in a patient 3, age 10 months; b, c patient 4, age 7 years;
and d patient 5, age 5 years. (Reprinted, with permission, from Dallapiccola and Pistocchi 1972)
a b
d c
Bibliography
Breg WR, Steele MW, Miller OJ, Warburton D, de Capoa A, Allderdice PW. The cri-du-chat syndrome in adolescents and adults: clinical findings in 13 older patients with partial deletion of the short arm of chromosome no. 5 (5p–).
J Pediatr 1970; 77: 782–91
Dallapiccola B, Pistocchi GF. Skeletal malformations caused by chromosome aberrations. Clinical and radiological study.
Minerva Med 1972; 63: 5049-208
Dallapiccola B, Pistocchi G, Forabosco A, Capra L. Skeletal changes in the “cri du chat” syndrome. Acta Genet Med Gemellol 1973; 22: 39–44
James AE, Atkins L, Feingold M, Janower ML. The cri du chat syndrome. Radiology 1969; 92: 50–2
Kjaer I, Niebuhr E. Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmen- tal field involved in the condition.Am J Med Genet 1999; 82:
6–14
Marinescu RC, Johnson EI, Dykens EM, Hodapp RM, Over- hauser J. No relationship between the size of the deletion and the level of developmental delay in cri-du-chat syn- drome. Am J Med Genet 1999; 86: 66–70
Niebuhr E. The cri du chat syndrome: epidemiology, cytoge- netics, and clinical features. Hum Genet 1978; 44: 227–75 Overhauser J, Huang X, Gersh M, Wilson W, McMahon J,
Bengtsson U, Rojas K, Meyer M, Wasmuth JJ. 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 1994; 3: 247–52
Wilkins LE, Brown JA, Nance WE, Wolf B. Clinical heterogene- ity in 80 home-reared children with cri du chat syndrome.
J Pediatr 1983; 102: 528–33
Cri-du-chat Syndrome 669
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Fig. 31.3.
Patient 4, age 7 years.
Mild thoracic scoliosis.
(Reprinted, with permission, from Dallapiccola and Pistocchi 1972)
Fig. 31.4 a–c. Narrow iliac wings with increased iliac angles;
vertebral abnormalities at the lumbosacral junction; incom- plete coverage of femoral heads by the acetabula; and valgus deformity of the femoral necks in a patient 6, age 1 year and
6 months; b patient 7, age 2 years; and c patient 4, age 7 years.
(Reprinted, with permission, from Dallapiccola and Pistocchi 1972)
a
b c
Cri-du-chat Syndrome 671
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Fig. 31.5. Patient 4, age 7 years. The hand is mildly short, with shortening of metacarpals; the 5th finger is clinodactylous. No major abnormalities are present. (Reprinted, with permission, from Dallapiccola and Pistocchi 1972)
