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Sporadic Cleidocranial Dysplasia in a Newborn: A 4-Year Follow-up Study.
- Source :
-
Neonatal Medicine . Nov2020, Vol. 27 Issue 4, p192-196. 5p. - Publication Year :
- 2020
-
Abstract
- Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplastic disease associated with mutations in the gene encoding the Runt-related transcription factor 2 (RUNX2). CCD is characterized by hypoplastic clavicles and patent cranial sutures. Management is essential to prevent complications during growth of the patient. Herein, we report a sporadic case of an infant with hypoplastic skull and clavicles at birth, which correlated with clinical findings of CCD. A heterozygous mutation was identified in the RUNX2 gene, which confirmed the diagnosis of CCD. [ABSTRACT FROM AUTHOR]
- Subjects :
- *RUNX proteins
*DYSPLASIA
*GENETIC mutation
*CRANIAL sutures
*CLAVICLE
Subjects
Details
- Language :
- English
- ISSN :
- 22879412
- Volume :
- 27
- Issue :
- 4
- Database :
- Academic Search Index
- Journal :
- Neonatal Medicine
- Publication Type :
- Academic Journal
- Accession number :
- 147541004
- Full Text :
- https://doi.org/10.5385/nm.2020.27.4.192