Sporadic Cleidocranial Dysplasia in a Newborn: A 4-Year Follow-up Study
Neonatal Medicine
;
: 192-196, 2020.
Artículo
en Inglés
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Tipo de estudio:
Estudio observacional
/
Estudio pronóstico
Idioma:
Inglés
Revista:
Neonatal Medicine
Año:
2020
Tipo del documento:
Artículo
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