DiGeorge syndrome associated with solitary median maxillary central incisor.
Asian Pac J Allergy Immunol
;
2005 Jun-Sep; 23(2-3): 159-63
Artículo
en Inglés
| 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:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Linaje
/
Síndrome de Dificultad Respiratoria del Recién Nacido
/
Anomalías Múltiples
/
Cromosomas Humanos Par 22
/
Femenino
/
Humanos
/
Recién Nacido
/
Deleción Cromosómica
/
Hibridación Fluorescente in Situ
/
Obstrucción de las Vías Aéreas
Idioma:
Inglés
Revista:
Asian Pac J Allergy Immunol
Año:
2005
Tipo del documento:
Artículo
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