ArticleJournal of clinical research in pediatric endocrinology2011
Case report: two patients with partial DiGeorge syndrome presenting with attention disorder and learning difficulties.
Article in Journal of clinical research in pediatric endocrinology, 2011. 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, 10 citations in OpenAlex.
- Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study.Internal medicine journal · 2024Review
- Hypocalcaemia in an adult: the importance of not overlooking the cause.BMJ case reports · 2018Article
- Clinical variability of chromosome 22q11.2 deletion syndrome.Central-European journal of immunology · 2017Article
- 22q11 deletion syndrome: current perspective.The application of clinical genetics · 2015Review
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Authors and funding
8 authors at 1 institution in 1 country.
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Abstract
DiGeorge syndrome (DGS) has classically been characterized by the triad of clinical features including congenital cardiac defects, immune deficiencies secondary to aplasia or hypoplasia of the thymus, and hypocalcaemia due to small or absent parathyroid glands. The phenotypic features of these patients are much more variable and extensive than previously recognized. The acknowledgement of similarities and phenotypic overlap of DGS with other disorders associated with genetic defects in 22q11 has led to an expanded description of the phenotypic features of DGS including palatal/speech abnormalities, as well as cognitive, neurological and psychiatric disorders. Here, we report the cases of two DGS patients with dysmorphic facial features who were initially admitted to the Psychiatry Department for attention disorder and learning difficulties.
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