J Pediatr Genet 2022; 11(01): 063-067
DOI: 10.1055/s-0040-1715120
Case Report

Osteopathia Striata with Cranial Sclerosis: A Face-to-Radiograph-to-Gene Diagnosis

Veronica Arora
1   Department of Clinical & Metabolic Genetics, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
1   Department of Clinical & Metabolic Genetics, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
K. K. Saxena
2   Department of Radiology, Sir Ganga Ram Hospital, New Delhi, India
,
Praveen Suman
3   Department of Pediatrics, Institute of Child Health, Sir Ganga Ram Hospital, New Delhi, India
,
Shyam Kukreja
4   Department of Pediatrics, Max Super Speciality Hospital, New Delhi, India
› Author Affiliations

Abstract

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.



Publication History

Received: 26 March 2020

Accepted: 20 June 2020

Article published online:
04 August 2020

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