Which disease is characterized by defects in bone mineralization leading to bone deformity in children?

Which disease is characterized by defects in bone mineralization leading to bone deformity in children?

• A. Vitamin D-resistant rickets
• B. Rett syndrome
• C. Aicardi syndrome
• D. Incontinentia pigmenti

Answer: (A)

The correct choice relates to a condition known as Vitamin D-resistant rickets, which is a genetic disorder that affects the body's ability to use vitamin D effectively, leading to issues with bone mineralization. In children, this manifests as rickets, where their bones do not properly mineralize, resulting in deformities and soft, weak bones. Vitamin D plays a crucial role in calcium absorption and bone health. When the body cannot utilize vitamin D due to a genetic defect, it results in a higher prevalence of bone deformities, particularly during periods of rapid growth in children. The condition is sometimes referred to as osteomalacia in adults, but the characteristic presentation in children includes bowing of the legs and other skeletal deformities. The other options listed pertain to different genetic conditions that do not primarily affect bone mineralization. Rett syndrome primarily affects neurological development, Aicardi syndrome is linked to brain and eye anomalies, and Incontinentia pigmenti involves issues with the skin, teeth, hair, and central nervous system. None of these directly relate to defects in bone mineralization.

The correct choice relates to a condition known as Vitamin D-resistant rickets, which is a genetic disorder that affects the body's ability to use vitamin D effectively, leading to issues with bone mineralization. In children, this manifests as rickets, where their bones do not properly mineralize, resulting in deformities and soft, weak bones.

Vitamin D plays a crucial role in calcium absorption and bone health. When the body cannot utilize vitamin D due to a genetic defect, it results in a higher prevalence of bone deformities, particularly during periods of rapid growth in children. The condition is sometimes referred to as osteomalacia in adults, but the characteristic presentation in children includes bowing of the legs and other skeletal deformities.

The other options listed pertain to different genetic conditions that do not primarily affect bone mineralization. Rett syndrome primarily affects neurological development, Aicardi syndrome is linked to brain and eye anomalies, and Incontinentia pigmenti involves issues with the skin, teeth, hair, and central nervous system. None of these directly relate to defects in bone mineralization.