A Filipino child with Cleidocranial Dysplasia and Acute Leukemia: A case report
https://doi.org/10.47895/amp.v54i4.1939
- Author:
Ebner Bon G. Maceda
1
,
2
;
Faustine Richelle C. Ong
3
;
Jeffrey T. Manto
4
;
Jochrys I. Estanislao
3
;
Gerardo L. Beltran
4
;
Melanie Liberty B. Alcausin
1
,
2
Author Information
1. Division of Clinical Genetics, Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila
2. Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila
3. Division of Pediatric Hematology and Oncology, Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila
4. Department of Radiology, Philippine General Hospital, University of the Philippines Manila
- Publication Type:Case Reports
- Keywords:
Autosomal dominant
- MeSH:
Cleidocranial Dysplasia;
Leukemia
- From:
Acta Medica Philippina
2020;54(4):442-445
- CountryPhilippines
- Language:English
-
Abstract:
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia whose most common features include late closure of fontanelles, absent or hypoplastic clavicles, and dental abnormalities. This disorder is primarily due to mutations in RUNX2 (CBFA1) gene. Here we present a Filipino child with clinical and radiologic features of CCD who was also diagnosed with B-cell acute lymphoblastic leukemia (ALL). On history, the patient’s father and paternal grandfather also presented with short stature and similar facial features. Association of leukemia and CCD has been noted in the literature. Hence, this report adds to the potential role of RUNX2 gene in leukemogenesis. With the potential predisposition to developing leukemia, this provides implications in genetic counselling and possible recommendations for surveillance later on.
- Full text:1939-Article Text-9592-1-10-20200827.pdf
