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...

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Main Authors: Dong-Yoon Yoo (Author), Hae Jung Kim (Author), Kee Hyun Cho (Author), Eun Byul Kwon (Author), Eun-Gyong Yoo (Author)
Format: Book
Published: Korean Society of Pediatric Endocrinology, 2017-06-01T00:00:00Z.
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