Which genetic syndrome involves both heart and limb anomalies and can be detected via ultrasound?

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The genetic syndrome that involves both heart and limb anomalies and is detectable via ultrasound is Holt-Oram syndrome. This condition is characterized by a combination of upper limb malformations (such as skeletal abnormalities in the arms and hands) and congenital heart defects, particularly atrial septal defects and ventricular septal defects.

Detection via ultrasound is possible because the physical anomalies in the heart and limbs can be visualized during prenatal imaging. This capability makes it essential for early diagnosis and potential management strategies for affected families.

The other syndromes in the choices do not present with this specific combination of heart and limb anomalies. For instance, Meckel-Gruber syndrome primarily includes renal cystic dysplasia and severe neurological conditions rather than the described limb defects. Stickler syndrome is associated with eye problems, hearing loss, and joint issues but does not typically involve the defined level of limb anomalies. Therefore, Holt-Oram syndrome is the appropriate choice given the criteria of heart and limb anomalies detectable via ultrasound.

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