All are seen in DiGeorge syndrome Except
Correct Answer: Hypercalcemia
Description: Congenital absence of parathyroid glands can occur in conjunction with other malformations, such as thymic aplasia and cardiovascular defects, or as a component of the DiGeorge syndrome or 22q11 deletion syndrome results from failure of development of the third and fouh pharyngeal pouches. The latter gives rise to the thymus, the parathyroids, some of the C cells of the thyroid, and the ultimobranchial body. Thus, individuals with this syndrome have (CATCH-22)Cardiac abnormality (interrupted aoic arch, truncus aeriosus and tetralogy of Fallot)Abnormal faciesThymic aplasia (loss of T cell-mediated immunity)Cleft palateHypocalcemia/hypoparathyroidismRef: Robbins Pathology; 9th edition; Page no: 241
Category:
Pathology
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