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Bilateral Cleft Lip and Palate in Ring Chromosome 7 Syndrome: A Case Report and Review of Clinical Characteristics
Kristaninta Bangun1, Prasetyanugraheni Kreshanti1, Vika Tania1
1Division of Plastic, Reconstructive and Aesthetic Surgery, Department of Surgery, Universitas Indonesia - Cipto Mangunkusumo General Hospital, Jakarta, Indonesia.
Insights
Ring chromosome 7 syndrome, a rare genetic disorder, can present with bilateral cleft lip and palate. This case highlights the need for comprehensive evaluations in children with syndromic features and developmental delays.
Area of Science:
- Genetics
- Pediatrics
- Craniofacial Anomalies
Background:
- Ring chromosome 7 syndrome is a rare chromosomal abnormality.
- Cleft lip and palate are common congenital anomalies.
- Syndromic features and intellectual disability are often associated with chromosomal disorders.
Abstract:
This report presents a case of ring chromosome 7 syndrome with bilateral cleft lip and palate. A four-year-old boy presented with bilateral cleft lip and palate, microcephaly, clenched toes, cafe-au-lait spots, a history of epilepsy, and severe intellectual disability. Genetic karyotyping revealed 46 XY r(7) (p22q36). His cheiloplasty and delayed palatoplasty were successful. A review of 22 previous r(7) patients revealed that 22.7% had cleft lip and/or palate. This case demonstrates the importance of a multidisciplinary evaluation for cleft patients, particularly those with syndromic features and global developmental delay.
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