Which condition presents with multiple joint contractures at birth?

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Multiple Choice

Which condition presents with multiple joint contractures at birth?

Explanation:
Congenital multiple joint contractures (arthrogryposis) are often seen in inherited conditions, and many of the autosomal dominant forms can present with contractures at birth. In autosomal dominant inheritance, a single mutated allele is enough to produce the phenotype, so affected individuals can appear in every generation and pass the trait to their offspring. This pattern fits best with a congenital presentation where one mutated gene can lead to the characteristic joint contractures seen at birth, as seen in disorders such as certain distal arthroplasia syndromes (for example, Freeman-Sheldon–type presentations). Autosomal recessive and X-linked patterns would require two mutated copies or a sex-linked transmission that typically shows different family patterns (often affecting siblings more than parents, or a male-predominant pattern), which is less consistent with a straightforward birth-onset contracture picture. Therefore autosomal dominant inheritance is the most fitting explanation for a condition presenting with multiple joint contractures at birth.

Congenital multiple joint contractures (arthrogryposis) are often seen in inherited conditions, and many of the autosomal dominant forms can present with contractures at birth. In autosomal dominant inheritance, a single mutated allele is enough to produce the phenotype, so affected individuals can appear in every generation and pass the trait to their offspring. This pattern fits best with a congenital presentation where one mutated gene can lead to the characteristic joint contractures seen at birth, as seen in disorders such as certain distal arthroplasia syndromes (for example, Freeman-Sheldon–type presentations).

Autosomal recessive and X-linked patterns would require two mutated copies or a sex-linked transmission that typically shows different family patterns (often affecting siblings more than parents, or a male-predominant pattern), which is less consistent with a straightforward birth-onset contracture picture. Therefore autosomal dominant inheritance is the most fitting explanation for a condition presenting with multiple joint contractures at birth.

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