Rare Cases
Osteogenesis imperfecta
● Introduction: The patient, a 24-year-old lady, complained of low back discomfort during water tubing.The past
• Family history: osteoporosis in the father and sister;
• Previous childhood fractures (digital fractures, Colle's fracture);
• Normal menstruation, ade
Achondroplasia
● General Information
•The most prevalent type of skeletal dysplasia, or short-limb dwarfism, is achondroplasia.
•The prevalence is about 1 in 15,000.
•Complete penetrance, autosomal dominant inheritance.
•De novo FGFR3 mutations account for 80% of cases (point muta
Dripping Wax Bone Disease – Melorheostosis
Patient Data
Age, Gender, and Occupation: Homemaker, 28 years old.
Location: Chennai, India's Sri Ramachandra Medical Centre.
The main complaint is three months of left knee pain.
Current Illness History
Onset: Slowly developing and sneaky.
Features of pain:
exacerbated by
Chronic Recurrent Multifocal Osteomyelitis
Background and Overview of the Disease
Rare and non-infectious, CRMO is an autoinflammatory bone disease that typically affects children and teenagers.
Giedion et al. initially described it in 1972
SAPHO syndrome (Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis) is thoug
Erdheim-Chester Disease
Patient Information
Age/Sex: female, 56 years old
Job Title: Instructor
Previous medical history: retroperitoneal tumor biopsied (no diagnosis at first); mesenteric panniculitis discovered eight years ago
Personal/Family History: No substantial family history, no smoking or a
Gorham-Stout Disease of the Skull Base
●Patient Information
•Gender and Age: 27-year-old female
•First Presentation: May 2017
•Previous State of Health: Previously in good health
•Signs and symptoms
➣First:
•gradual loss of teeth over several months
•Swelling of the left mandible (5-d
stone man syndrome/ Fibrodysplasia ossificans progressiva
Patient: 10-year-old boy
o Signs:
Pain and sensitive lumps on the left arm, left hip, and back for six months
Gradual deterioration → walking difficulties, limited hip and shoulder mobility
Hallux valgus on both sides since birth
no siblings, no fami