Which of the following features is NOT associated with DiGeorge Syndrome?

Which of the following features is NOT associated with DiGeorge Syndrome?

• A. Thymic dysplasia
• B. Cardiac abnormalities
• C. Hypocalcemia
• D. Macrocephaly

Answer: (D)

DiGeorge Syndrome, also known as 22q11.2 deletion syndrome, is characterized by a range of clinical features that originate from the development of the third and fourth pharyngeal pouches. One of the hallmark aspects of this syndrome is thymic dysplasia, which leads to immunodeficiency due to a lack of functional T cells. Cardiac abnormalities are also common, as patients often present with congenital heart defects such as tetralogy of Fallot or truncus arteriosus. Hypocalcemia, which occurs due to reduced parathyroid hormone secretion from parathyroid dysgenesis, is another significant feature. Macrocephaly, on the other hand, is not typically associated with DiGeorge Syndrome. Instead, individuals with this condition may more commonly present with microcephaly or normal-sized head circumferences. Hence, it is accurate to identify macrocephaly as a feature that is NOT associated with DiGeorge Syndrome. This distinction is critical for healthcare providers, as recognizing the typical phenotypic expressions of the syndrome can facilitate a timely diagnosis and appropriate management.

DiGeorge Syndrome, also known as 22q11.2 deletion syndrome, is characterized by a range of clinical features that originate from the development of the third and fourth pharyngeal pouches. One of the hallmark aspects of this syndrome is thymic dysplasia, which leads to immunodeficiency due to a lack of functional T cells. Cardiac abnormalities are also common, as patients often present with congenital heart defects such as tetralogy of Fallot or truncus arteriosus. Hypocalcemia, which occurs due to reduced parathyroid hormone secretion from parathyroid dysgenesis, is another significant feature.

Macrocephaly, on the other hand, is not typically associated with DiGeorge Syndrome. Instead, individuals with this condition may more commonly present with microcephaly or normal-sized head circumferences. Hence, it is accurate to identify macrocephaly as a feature that is NOT associated with DiGeorge Syndrome. This distinction is critical for healthcare providers, as recognizing the typical phenotypic expressions of the syndrome can facilitate a timely diagnosis and appropriate management.