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Growth charts for cri-du-chat syndrome: an international collaborative study
R C Marinescu1, P C Mainardi, M R Collins
1Department of Biochemistry and Molecular Pharmacology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Insights
Children with cri-du-chat syndrome often have low birth weight and slow growth. Syndrome-specific growth charts reveal most exhibit microcephaly and compromised weight and height compared to the general population.
Area of Science:
- Medical Genetics
- Pediatrics
- Growth and Development
Background:
- Cri-du-chat syndrome is associated with low birth weight and impaired growth.
- Existing growth references do not adequately represent children with this condition.
Purpose of the Study:
- To establish syndrome-specific growth charts for children with cri-du-chat syndrome.
- To provide a reference standard for monitoring growth in this population.
Main Methods:
- Combined cross-sectional and longitudinal data from 374 patients.
- Data collected from North America, Italy, Australia, and the British Isles.
- Utilized pediatric records, parent reports, and personal examinations.
Main Results:
- Developed growth curves for height, weight (0-18 years), and head circumference (0-15 years).
- 50% of patients had birth weight above the 5th percentile; mean weights were 2.8 kg (males) and 2.6 kg (females).
- Growth curve medians were typically at or below the 5th centile; head circumference fell below the 2nd centile, worsening with age.
Conclusions:
- Most children with cri-du-chat syndrome are small at birth.
- Significant microcephaly and compromised weight-for-age are common, with height-for-age also affected.
- Syndrome-specific charts are crucial for accurate growth assessment in cri-du-chat syndrome.
Abstract:
Low birth weight and slow growth are frequently observed in the patients with cri-du-chat syndrome. To provide a growth reference standard for children with cri-du-chat syndrome, syndrome-specific growth charts have been developed from a combination of cross-sectional and longitudinal measurements on 374 patients from North America, Italy, Australia, and the British Isles. The data were obtained from pediatric records, parent reporting, and personal examinations at national 5p- parent support group meetings in the U.S., Italy, U.K., and Australia. The growth curves include height and weight measurements for patients ages 0 to 18 years and head circumference measurements for patients ages 0 to 15 years. Birth weight was above the 5th percentile of general population in 50% of cases: mean weight 2.8 kg +/- 1.85 SD for males and 2.6 kg +/- 1.51 SD for females. Growth curve medians were usually at or below the 5th centile of reference populations throughout life. The median head circumference falls below the 2nd centile, and this change increases with age. The charts show that compared with the standard population, most children with cri-du-chat syndrome are small at birth and as they grow most, but not all, have significant microcephaly and compromised weight for age, and to a lesser extent, compromised height for age. Am. J. Med. Genet. 94:153-162, 2000.
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