Sporadic Cleidocranial Dysplasia in a Newborn: A 4-Year Follow-up Study
Neonatal Medicine
;
: 192-196, 2020.
Artigo
em Inglês
| WPRIM
| ID: wpr-902806
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo observacional
/
Estudo prognóstico
Idioma:
Inglês
Revista:
Neonatal Medicine
Ano de publicação:
2020
Tipo de documento:
Artigo
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