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The Many Facies of DiGeorge
The Many Facies Of DiGEORGE SYNDROME
1: 4000 Births
90% Have a 22q11.2 Deletion
10% Microdeletion of Chromosome 10p
Pathophysiology
Defective Neural Crest cells
Defects of the 3rd and 4th Pharyngeal Pouches and Brachial Arches
T-Box Family of Genes
TBX1 = conotruncal cardiac defects
Dysmorphic Facies
Lateral build up of nasal bridge
Hypertelorism
Micrognathia
Short philtrum
Low set ears
Defective pinna
Thymic Hypoplasia
Congenital Immunodeficiency
Hypoparathyroidism
Hypocalcemia
Abnormal Facies
Congenital Heart Defects
Multisystem Organ Disorder
Developmental delays
Speech and language delay
Unmet milestones
Tetralogy of Fallot
Interrupted Aortic Arch Type B
Any Conotruncal Heart Defects
Truncus Arteriosus
Pulmonary Atresia with Ventriculoseptal Defect
Right-Sided Aortic Arch
Hypocalcemia
Immune Defects
T-cell Lymphopenia
Humoral Immune Defect
Absent Thymus
Recurrent Infections
Autoimmune Disease
Airway Abnormalities
Anterior Glottic Webs
Cleft Palate
Velopharyngeal Insufficiency
Mortality related to CHD 8% to 85%
Poor prognosis with absent thymus mortality 55%-85%
Early intervention