system
Medical AI Inquiry: You were designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.
user
A 5-year-old girl is brought to her pediatrician for vaccinations and a physical. She is a generally healthy child with no thumb on her right hand and a shortened and deformed left thumb. She was born at 39 weeks gestation via spontaneous vaginal delivery and is up to date on all vaccines and meeting all developmental milestones. On physical examination her vital signs are stable. On auscultation of the heart, the pediatrician notes a wide fixed split in the second heart sound (S2) and a medium-pitched systolic ejection murmur at the left sternal border. The murmur is not harsh in quality and is not accompanied by a thrill. Her echocardiogram confirms the diagnosis of acyanotic congenital heart defect with left-to-right shunt. Which of the following genetic syndromes is most consistent d with this girl’s congenital defects?
assistant
Holt-Oram syndrome