What is the expected clinical presentation of a child with DiGeorge's syndrome?

Prepare for the PLAB Pediatrics Exam with targeted quizzes. Enhance your knowledge with practice questions, hints, and detailed explanations. Get ready to succeed!

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is characterized by a number of clinical features that stem from the developmental disruption of structures derived from the third and fourth pharyngeal pouches. One of the hallmark presentations in infants and children with this condition is recurrent infections. This is primarily due to thymic hypoplasia or aplasia, leading to T-cell deficiency, which compromises the immune response. As a result, children with DiGeorge syndrome are more susceptible to infections.

Additionally, these children may experience feeding difficulties, which can arise from anatomical issues (such as congenital heart defects or cleft palate) and underlying developmental delays affecting the swallowing reflex. Together, recurrent infections and feeding difficulties are classic presentations associated with this syndrome, as they highlight the immunocompromised state of affected children and the associated challenges they face in their early development and care.

The other options presented do not align with the primary clinical manifestations of DiGeorge syndrome. Sudden weight gain, for example, is more typical of other conditions such as adrenal insufficiency, and severe allergic reactions are not specifically characteristic of DiGeorge syndrome. Isolated limb abnormalities may suggest other congenital syndromes or conditions, but they do not typically present in conjunction with the

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy