Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl with imperforated anus

Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS). However, because of its wide clinical spectrum, diagnosis of 22q11DS can be delayed in children without classic symptoms. We report the case of...

Descripción completa

Detalles Bibliográficos
Autores principales: Yoo, Dong-Yoon, Kim, Hae Jung, Cho, Kee Hyun, Kwon, Eun Byul, Yoo, Eun-Gyong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Endocrinology 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5495981/
https://www.ncbi.nlm.nih.gov/pubmed/28690994
http://dx.doi.org/10.6065/apem.2017.22.2.133

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5495981/
https://www.ncbi.nlm.nih.gov/pubmed/28690994
http://dx.doi.org/10.6065/apem.2017.22.2.133

Ejemplares similares