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Year : 2022  |  Volume : 5  |  Issue : 1  |  Page : 37-39

Cantu and alport syndrome in a young girl

1 Department of Paediatrics, Caritas Medical Centre, Kowloon, Hong Kong, China
2 Department of Pediatrics, The Hong Kong Children's Hospital, Kowloon, Hong Kong, China
3 Department of Health, Clinical Genetic Service, Kowloon, Hong Kong, China

Correspondence Address:
Chi San Wai
Department of Paediatrics, Caritas Medical Centre, 111 Wing Hong Street, Sham Shui Po, Kowloon, Hong Kong
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ajpn.ajpn_9_21

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We report a 9-year-old girl with nephritis, dysmorphism, and short stature. She was diagnosed to have Cantu syndrome and Alport syndrome by whole-exome sequencing. Diagnosis of patients with two or more syndromes is challenging due to blended phenotypes. This case illustrates the clinical utility of exome testing in patients with medical complexity.

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