DiGeorge syndrome associated with solitary median maxillary central incisor.
Asian Pac J Allergy Immunol
;
2005 Jun-Sep; 23(2-3): 159-63
Artigo
em Inglês
| IMSEAR
| ID: sea-36574
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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Linhagem
/
Síndrome do Desconforto Respiratório do Recém-Nascido
/
Anormalidades Múltiplas
/
Cromossomos Humanos Par 22
/
Feminino
/
Humanos
/
Recém-Nascido
/
Deleção Cromossômica
/
Hibridização in Situ Fluorescente
/
Obstrução das Vias Respiratórias
Idioma:
Inglês
Revista:
Asian Pac J Allergy Immunol
Ano de publicação:
2005
Tipo de documento:
Artigo
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