Which syndrome includes skeletal abnormalities of the arm and heart defects?

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Holt-Oram Syndrome is characterized by skeletal abnormalities, particularly involving the upper limbs, and is also associated with congenital heart defects. This condition is caused by mutations in the TBX5 gene, which plays a crucial role in the development of the heart and the upper limbs.

Individuals with Holt-Oram Syndrome may present with varying degrees of abnormalities in their arms, such as underdeveloped or missing bones, and they often have a spectrum of heart defects, which can include atrial septal defects, ventricular septal defects, and more complex congenital heart malformations. This combination of skeletal and cardiac anomalies is a hallmark of the syndrome, making it the correct answer.

Other syndromes mentioned have different primary features. Incontinentia Pigmenti typically involves skin, teeth, hair, and ocular abnormalities rather than skeletal and cardiac defects. Kabuki Syndrome is primarily associated with specific facial features, developmental delays, and other systemic manifestations but does not prominently feature the combination of skeletal abnormalities and heart defects. Goldenhar Syndrome, known for its facial asymmetry and associated ear and eye abnormalities, also does not include the specific skeletal and cardiac issues seen in Holt-Oram Syndrome.

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