ArticleAnnals of pediatric endocrinology & metabolism2017
Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl with imperforated anus.
Article in Annals of pediatric endocrinology & metabolism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 11 citations in OpenAlex.
- Late diagnosis of DiGeorge syndrome in a 13-year-old male with subclinical course of the disease - case report and literature review.Pediatric endocrinology, diabetes, and metabolism · 2023Review
- Fever of Unknown Origin Reveals a Missed Diagnosis of DiGeorge Syndrome in a 21-Year-Old Female.Cureus · 2022Article
- Late diagnosed DiGeorge syndrome in a 44-year-old female: a rare cause for recurrent syncopes in adulthood-a case report.European heart journal. Case reports · 2021Article
- Chromosome 22q11.21 and 11p15.4 microdeletions confirmed by high-throughput sequencing analysis in one patient with asymmetric cry syndrome: Case report and review of the literature.Clinical case reports · 2021Article
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Authors and funding
5 authors at 2 institutions in 1 country.
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Abstract
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 a girl with the history of imperforate anus but without neonatal hypocalcemia or major cardiac anomaly, who was diagnosed for 22q11DS at the age of 11 after the onset of overt hypocalcemia. She was born uneventfully from phenotypically normal Korean parents. Imperforate anus and partial cleft palate were found at birth, which were surgically repaired thereafter. There was no history of neonatal hypocalcemia, and karyotyping by GTG banding was normal. At the age of 11, hypocalcemia (serum calcium, 5.0 mg/dL) and decreased parathyroid hormone level (10.8 pg/mL) was noted when she visited our Emergency Department for fever and vomiting. The 22q11DS was suspected because of her mild mental retardation and velopharyngeal insufficiency, and a microdeletion on chromosome 22q11.2 was confirmed by fluorescence
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