marble bones disease

Thân thiện

A child with marble bones disease has a doctor's appointment for a bone scan.

Definition

Noun: - A rare genetic bone disorder: "Marble bones disease" is the common name for osteopetrosis, an inherited condition where bones become abnormally dense and hard, resembling marble. - Characterized by increased bone density: The primary feature is a defect in bone remodeling, leading to excessive accumulation of bone mass. - Can affect bone marrow function: In severe cases, the dense bone can encroach on the space for bone marrow, potentially impairing the production of blood cells.

Usage Examples

• Noun:
  • The infant was diagnosed with marble bones disease, which explained the frequent fractures.
  • Treatment for marble bones disease often focuses on managing complications like anemia and infections.
  • Researchers are studying gene therapies for this form of marble bones disease.

Advanced Usage

• Clinical context: The term is often used in medical and patient education contexts to describe the condition's visual and tactile characteristics on X-rays and physical examination.
  • The radiograph showed the classic "marble-like" appearance consistent with marble bones disease.

Variants and Related Words

• Osteopetrosis (n): The formal medical term for marble bones disease.
  • Albers-Schönberg disease is another name for a type of osteopetrosis.
• Osteosclerotic (adj): Describing abnormal bone hardening, a key feature of the disease.
  • The biopsy revealed osteosclerotic changes.

Synonyms

• Osteopetrosis: The direct technical synonym.
• Albers-Schönberg disease: A specific eponymous name for one form of the disorder.

Học thuật

Noun

1. an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated

Từ đồng nghĩa

• osteopetrosis
• Albers-Schonberg disease