DiGeorge syndrome associated with solitary median maxillary central incisor.

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.

• Authors: Huai-Chih Yang, Shyh-Dar Shyur, Li-Hsin Huang, Yi-Chi Chang, Da-Chin Wen, Pei-Hsuan Liang, Mao-Tsair Lin
• Journal: Asian Pacific journal of allergy and immunology (Asian Pac J Allergy Immunol) Vol. 23 Issue 2-3 Pg. 159-63 ( 2005) ISSN: 0125-877X [Print] Thailand
• PMID: 16252847 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple
• Airway Obstruction (complications, diagnosis)
• Chromosome Deletion
• Chromosomes, Human, Pair 22 (genetics)
• DiGeorge Syndrome (complications, diagnosis)
• Female
• Humans
• In Situ Hybridization, Fluorescence
• Incisor (abnormalities)
• Infant, Newborn
• Maxilla (abnormalities)
• Pedigree
• Respiratory Distress Syndrome, Newborn (diagnosis, etiology)