Download PDF
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
,
Sunita Bijarnia-Mahay 
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
› Further Information
Also available at
    Permissions and Reprints

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.

Keywords

AMER1 - Face2Gene - osteopathia striata with cranial sclerosis


Publication History

Received: 26 March 2020

Accepted: 20 June 2020

Article published online:
04 August 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Jenkins ZA, van Kogelenberg M, Morgan T. et al. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet 2009; 41 (01) 95-100
    CrossrefPubMedGoogle Scholar
  • 2 Rott HD, Krieg P, Rütschle H, Kraus C. Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS). Genet Couns 2003; 14 (03) 281-288
    PubMedGoogle Scholar
  • 3 Bijarnia-Mahay S, Arora V. Next generation clinical practice - it's man versus artificial intelligence!. Indian Pediatr 2019; 56 (12) 1007-1008
    CrossrefPubMedGoogle Scholar
  • 4 Zicari AM, Tarani L, Perotti D. et al. WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features. Ital J Pediatr 2012; 38: 27
    CrossrefPubMedGoogle Scholar
  • 5 Ward LM, Rauch F, Travers R. et al. Osteopathia striata with cranial sclerosis: clinical, radiological, and bone histological findings in an adolescent girl. Am J Med Genet A 2004; 129A (01) 8-12
    CrossrefPubMedGoogle Scholar