ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 15 Issue: 4 Year: 2023
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Turkish Society for Pediatric Endocrinology and Diabetes
Case Report: Two Patients with Partial DiGeorge Syndrome Presenting with Attention Disorder and Learning Difficulties [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2011; 3(2): 95-97 | DOI: 10.4274/jcrpe.v3i2.19

Case Report: Two Patients with Partial DiGeorge Syndrome Presenting with Attention Disorder and Learning Difficulties

Bülent Hacıhamdioğlu1, Merih Berberoğlu1, Zeynep Şıklar1, Figen Doğu2, Pelin Bilir1, Şenay Savaş Erdeve2, Aydan İkincioğulları2, Gönül Öçal1
1Ankara University School Of Medicine, Department Of Pediatric Endocrinology, Cebeci, Ankara, Turkey
2Ankara University School Of Medicine, Department Of Pediatric Immunology, Cebeci, Ankara, Turkey

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.

Keywords: DiGeorge syndrome,psychiatric problems,adolescent

Bülent Hacıhamdioğlu, Merih Berberoğlu, Zeynep Şıklar, Figen Doğu, Pelin Bilir, Şenay Savaş Erdeve, Aydan İkincioğulları, Gönül Öçal. Case Report: Two Patients with Partial DiGeorge Syndrome Presenting with Attention Disorder and Learning Difficulties. J Clin Res Pediatr Endocrinol. 2011; 3(2): 95-97
Manuscript Language: English
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