osteopathia striata with cranial sclerosis

Pathology

• sclerosing bone dysplasia
• sclerosis of the long bones & skull

Genetics

• X-linked dominant
• associated with defects in AMER1

Clinical manifestations

• presents in females with
  • macrocephaly
  • cleft palate
  • facial palsy
  • conductive hearing loss
  • mild learning disabilities
• in males
  • usually associated with fetal death or neonatal death
  • occasional surviving males with
    • hyperostosis
    • cardiac malformations
    • intestinal malformations
    • genitourinary malformations

Radiology

• radiographs of the long bones, pelvis, & scapulae
  • longitudinal striations are visible (osteopathia striata)

More general terms

• genetic disease of bone/skeletal system

Database

• OMIM: https://mirror.omim.org/entry/300373