title: 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.affiliation: Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Huai-Chih
authors.initials: HC
authors.lastname: Yang
authors.forename: Shyh-Dar
authors.initials: SD
authors.lastname: Shyur
authors.forename: Li-Hsin
authors.initials: LH
authors.lastname: Huang
authors.forename: Yi-Chi
authors.initials: YC
authors.lastname: Chang
authors.forename: Da-Chin
authors.initials: DC
authors.lastname: Wen
authors.forename: Pei-Hsuan
authors.initials: PH
authors.lastname: Liang
authors.forename: Mao-Tsair
authors.initials: MT
authors.lastname: Lin
mesh_terms: D000015:Abnormalities, Multiple; D000402:Airway Obstruction / Q000150:complications / Q000175:diagnosis; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004062:DiGeorge Syndrome / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007180:Incisor / Q000002:abnormalities*; D007231:Infant, Newborn; D008437:Maxilla / Q000002:abnormalities*; D010375:Pedigree; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis / Q000209:etiology