Osteopathia Striata with Cranial Sclerosis: A Face-to-Radiograph-to-Gene Diagnosis.
Veronica AroraSunita Bijarnia MahayK K SaxenaPraveen SumanShyam KukrejaPublished in: Journal of pediatric genetics (2020)
Osteopathia striata with cranial sclerosis is an X-linked dominant bone dysplasia with osteosclerosis. It should be suspected in girls with macrocephaly, intellectual disability with unique facial dysmorphic features. We described the clinical and radiological profile of a patient with this rare disorder. A novel heterozygous variant was identified in the AMER1 gene which leads to premature truncation of the AMER1 protein. Facial gestalt recognition using artificial intelligence and radiographic features were used to narrow the differential diagnosis.
Keyphrases
- artificial intelligence
- intellectual disability
- soft tissue
- machine learning
- autism spectrum disorder
- big data
- genome wide
- deep learning
- copy number
- genome wide identification
- bone mineral density
- early onset
- case report
- protein protein
- temporal lobe epilepsy
- dna methylation
- binding protein
- amino acid
- small molecule
- genome wide analysis
- body composition
- postmenopausal women