A 6-year-old child with DiGeorge syndrome is brought to your office for her annual physical examination.Which clinical feature is LEAST likely to be associated with DiGeorge Syndrome in this child?
A 2-day-old neonate is admitted to the neonatal intensive care unit after being noted to have a heart murmur and dysmorphic facial features. On further evaluation, the infant is found to have a conotruncal cardiac defect, cleft palate, and hypocalcemia. The neonate also has a history of recurrent infections. These findings raise concern for a genetic syndrome associated with aberrant development of certain embryologic structures. Which embryologic abnormality is most commonly responsible for the constellation of findings seen in this neonate, including conotruncal cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, and hypocalcemia (commonly known as CATCH 22)?
A 4-year-old child presents with recurrent upper respiratory tract infections and developmental delay. The child has dysmorphic facial features, including a broad nasal bridge and low-set ears. On laboratory testing, hypocalcemia is noted, and a chest X-ray shows an absent thymic shadow. Which of the following is the underlying cause of this condition?
A 2-month-old infant is brought to the emergency department with cyanosis and difficulty breathing. On physical exam, the baby has a heart murmur and mild facial abnormalities, including a small jaw and low-set ears. Echocardiography reveals a ventricular septal defect and truncus arteriosus. Laboratory tests show low calcium levels and a T-cell count below normal. What is the most likely diagnosis?
A 55-year-old woman presents to the rheumatology clinic with complaints of progressive difficulty swallowing, recurrent heartburn, and intermittent cold-induced color changes in her fingers. She has also noticed firm, tight skin on her fingers, making it difficult to fully extend them. Additionally, she reports the appearance of red spots on her face and hands over the past year. She denies any joint pain, fevers, or weight loss. History & Physical Examination Past Medical History: Long-standing Raynaud’s phenomenon affecting her fingers, first noticed in her 40s. Family History: No known autoimmune disorders. Social History: No smoking or alcohol use. Medications: Occasional use of ibuprofen for headaches. Physical Examination: Vitals: Normal temperature, BP: 130/85 mmHg, HR: 78 bpm. Hands: Tight, thickened skin over the fingers (sclerodactyly). Raynaud’s phenomenon: Color changes in fingers upon cold exposure (white → blue → red). Face & Extremities: Telangiectasias (small red spots) over the face and hands. No synovitis or joint swelling. GI Examination: No tenderness. No hepatosplenomegaly. Which of the following findings is most characteristic of this patient’s condition?
A 9-month-old girl is brought to the clinic with a blanching, pink, maculopapular rash on her trunk, which appeared shortly after her fever resolved. The mother reports that the child had a 4-day history of high fever, but the child remained playful and alert throughout. There are no signs of cough, conjunctivitis, or lymphadenopathy. Question: What is the most appropriate management for this patient?
A toddler, previously healthy, had a fever lasting for several days, which now has subsided. The parents are concerned about a new rash that started on the trunk and has since spread to the arms and legs, but the child seems otherwise well. What is the typical progression of the rash associated with this condition?
Patient Case: A 12-month-old child with roseola infantum develops a febrile seizure during the high fever phase. The seizure lasts less than 5 minutes and resolves spontaneously. The parents are concerned about long-term complications. Question: What is the most appropriate next step in management?
A 15-month-old boy is brought to the emergency department after experiencing a brief febrile seizure. The parents report that the child had high fever for the past 3 days, which suddenly resolved today, followed by the appearance of a pink rash on his chest and back. The child is alert and playful, with normal vital signs and no focal neurological signs. Question: Which of the following is the most likely explanation for the febrile seizure?
A 1-year-old girl is brought to the clinic with a 3-day history of high fever (up to 39.5°C). The mother reports that the fever abruptly resolved this morning, but she noticed a pink, maculopapular rash on the child’s chest and back. The child is playful and alert with no respiratory or gastrointestinal symptoms. On examination, the rash is blanching and non-pruritic, primarily affecting the trunk and spreading to the neck and arms. Question: Which of the following viruses is most likely responsible for this condition?
