Search
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)
General
genetic disease of bone/skeletal system
Database Correlations
OMIM 300373
References
OMIM :accession 300373