[Familial infantile cortical hyperostosis (author's transl)]

Area of Science:

• Pediatric Genetics
• Skeletal Dysplasias
• Medical Genetics

Background:

• Caffey's disease, also known as infantile cortical hyperostosis, is a rare disorder.
• It is characterized by bone overgrowth and soft tissue swelling.

Observation:

• A new case of familial Caffey's disease is presented.
• Detailed clinical, radiological, and pathological findings are described.

Findings:

• The observed hereditary pattern suggests autosomal dominant inheritance.
• Variable penetrance and expressivity were noted in the familial cases.

Implications:

• Enhanced familial investigations are crucial for all cases of infantile cortical hyperostosis.
• Understanding the genetic basis aids in early diagnosis and management.