Growth charts for cri-du-chat syndrome: an international collaborative study

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.