DiGeorge syndrome associated with solitary median maxillary central incisor |
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Authors: | Yang Huai-Chih Shyur Shyh-Dar Huang Li-Hsin Chang Yi-Chi Wen Da-Chin Liang Pei-Hsuan Lin Mao-Tsair |
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Affiliation: | Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan. |
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Abstract: | DiGeorge syndrome is a primary immunodeficiency disease characterized by dysgenesis of the thymus and parathyroid glands, conotruncal cardiac anomalies, and other dysmorphic features. Although most patients have a common microscopic deletion in chromosome 22q11.2, marked clinical variability exists. A solitary median maxillary central incisor (SMMCI) is a rare dental anomaly which may be an isolated occurrence or associated with congenital nasal airway abnormalities or holoprosencephaly. We report a patient with DiGeorge syndrome who was diagnosed at nearly 1 month of age and was later found to have a solitary median central incisor. Initially, the patient presented with recurrent episodes of respiratory distress attributed to partial airway obstruction, one of the phenotypic features of SMMCI. A fluorescence in situ hybridization study showed a chromosome 22q11.2 deletion. |
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