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Ahmed 

DiGeorge syndrome

IF you notice the low set ears in the photo , what other conditions can cause low set ears?.. think about it.

''DiGeorge syndrome, also known as velocardiofacial syndrome or CATCH 22 syndrome

 (cardiac anomalies, abnormal facies, thymic hypoplasia, cleft palate, and hypocalcemia),

 is the result of dysmorphogenesis of the third and fourth pharyngeal pouches, resulting in hypoplasia of the thymus required for T-cell maturation. Most, but not all, patients with DiGeorge syndrome have a deletion on chromosome 22q11.2. 

DiGeorge syndrome is classically characterized by hypocalcemic tetany, conotruncal and aortic arch anomalies, and increased infections.

The diagnosis is established by fluorescent in situ hybridization or a polymerase chain reaction with a DNA probe to detect deletions in chromosome 22q11.2. 

Most patients have partial immune defects with low T-cell numbers and function that generally improve with age''
Nelson ESSENTIALS OF PEDIATRICS

DiGeorge syndrome

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