Lethal prenatal onset infantile cortical hyperostosis (Caffey disease)

Area of Science:

• Medical Genetics
• Prenatal Diagnosis
• Skeletal Dysplasias

Background:

• Infantile cortical hyperostosis (Caffey disease) is a rare disorder typically presenting postnatally.
• Prenatal diagnosis of Caffey disease remains challenging due to the absence of specific biomarkers.

Observation:

• A sporadic case of lethal prenatal onset Caffey disease is presented, with the infant dying at 30 weeks gestation.
• Maternal complications included antepartum hemorrhage and preterm labor, with polyhydramnios noted.
• The infant exhibited symmetrical subperiosteal cortical thickening, short extremities, hepatomegaly, and lung hypoplasia.

Findings:

• The skeletal abnormalities included extensive diaphyseal cortical thickening and short, angulated long bones.
• Ultrasound findings revealed irregular and echodense diaphyses without evidence of fractures.

Implications:

• Diagnostic ultrasound is currently the primary method for prenatal identification of Caffey disease.
• Consideration of Caffey disease is recommended for fetuses presenting with characteristic ultrasound findings of skeletal dysplasia.