Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features
We report a 26-year-old Thai man who presented with hypoparathyroidism in adulthood. He had no history of cardiac disease and recurrent infection. His subtle dysmorphic facial features and mild intellectual impairment were suspected for chromosome 22q11.2 deletion syndrome. The diagnosis was confirm...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2013/802793 |
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| author | Sira Korpaisarn Objoon Trachoo Chutintorn Sriphrapradang |
| author_facet | Sira Korpaisarn Objoon Trachoo Chutintorn Sriphrapradang |
| author_sort | Sira Korpaisarn |
| collection | DOAJ |
| description | We report a 26-year-old Thai man who presented with hypoparathyroidism in adulthood. He had no history of cardiac disease and recurrent infection. His subtle dysmorphic facial features and mild intellectual impairment were suspected for chromosome 22q11.2 deletion syndrome. The diagnosis was confirmed by fluorescence in situ hybridization, which found microdeletion in 22q11.2 region. The characteristic facial appearance can lead to clinical suspicion of this syndrome. The case report emphasizes that this syndrome is not uncommon and presents as a remarkable variability in the severity and extent of expression. Accurate diagnosis is important for genetic counseling and long-term health supervision by multidisciplinary team. |
| format | Article |
| id | doaj-art-4d9583cbbbf7400d955aef550349aafe |
| institution | Kabale University |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-4d9583cbbbf7400d955aef550349aafe2025-02-03T01:21:38ZengWileyCase Reports in Endocrinology2090-65012090-651X2013-01-01201310.1155/2013/802793802793Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial FeaturesSira Korpaisarn0Objoon Trachoo1Chutintorn Sriphrapradang2Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, ThailandDepartment of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, ThailandDepartment of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, ThailandWe report a 26-year-old Thai man who presented with hypoparathyroidism in adulthood. He had no history of cardiac disease and recurrent infection. His subtle dysmorphic facial features and mild intellectual impairment were suspected for chromosome 22q11.2 deletion syndrome. The diagnosis was confirmed by fluorescence in situ hybridization, which found microdeletion in 22q11.2 region. The characteristic facial appearance can lead to clinical suspicion of this syndrome. The case report emphasizes that this syndrome is not uncommon and presents as a remarkable variability in the severity and extent of expression. Accurate diagnosis is important for genetic counseling and long-term health supervision by multidisciplinary team.http://dx.doi.org/10.1155/2013/802793 |
| spellingShingle | Sira Korpaisarn Objoon Trachoo Chutintorn Sriphrapradang Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features Case Reports in Endocrinology |
| title | Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features |
| title_full | Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features |
| title_fullStr | Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features |
| title_full_unstemmed | Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features |
| title_short | Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features |
| title_sort | chromosome 22q11 2 deletion syndrome presenting as adult onset hypoparathyroidism clues to diagnosis from dysmorphic facial features |
| url | http://dx.doi.org/10.1155/2013/802793 |
| work_keys_str_mv | AT sirakorpaisarn chromosome22q112deletionsyndromepresentingasadultonsethypoparathyroidismcluestodiagnosisfromdysmorphicfacialfeatures AT objoontrachoo chromosome22q112deletionsyndromepresentingasadultonsethypoparathyroidismcluestodiagnosisfromdysmorphicfacialfeatures AT chutintornsriphrapradang chromosome22q112deletionsyndromepresentingasadultonsethypoparathyroidismcluestodiagnosisfromdysmorphicfacialfeatures |