Bilateral Cleft Lip and Palate in Ring Chromosome 7 Syndrome: A Case Report and Review of Clinical Characteristics

Kristaninta Bangun; Prasetyanugraheni Kreshanti; Vika Tania; Yulia Ariani Aswin; Clara Menna; Leorca Aurino

doi:10.1177/10556656221149243

Bilateral Cleft Lip and Palate in Ring Chromosome 7 Syndrome: A Case Report and Review of Clinical Characteristics

Kristaninta Bangun, Prasetyanugraheni Kreshanti, Vika Tania, Yulia Ariani Aswin, Clara Menna, Leorca Aurino

Department of Surgery

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	527-533
Number of pages	7
Journal	Cleft Palate-Craniofacial Journal
Volume	61
Issue number	3
DOIs	https://doi.org/10.1177/10556656221149243
Publication status	Accepted/In press - 2023

Keywords

bilateral cleft lip and palate syndrome
ring chromosome
ring chromosome 7 syndrome

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10.1177/10556656221149243

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title = "Bilateral Cleft Lip and Palate in Ring Chromosome 7 Syndrome: A Case Report and Review of Clinical Characteristics",

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.",

keywords = "bilateral cleft lip and palate syndrome, ring chromosome, ring chromosome 7 syndrome",

author = "Kristaninta Bangun and Prasetyanugraheni Kreshanti and Vika Tania and {Ariani Aswin}, Yulia and Clara Menna and Leorca Aurino",

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AU - Bangun, Kristaninta

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AU - Tania, Vika

AU - Ariani Aswin, Yulia

AU - Menna, Clara

AU - Aurino, Leorca

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AB - 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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Bilateral Cleft Lip and Palate in Ring Chromosome 7 Syndrome: A Case Report and Review of Clinical Characteristics

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