J Pediatr Genet 2019; 08(02): 063-068
DOI: 10.1055/s-0038-1672135
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Interpreting Osteogenesis Imperfecta Variants of Uncertain Significance in the Context of Physical Abuse: A Case Series

Jennifer Canter
1  Department of Pediatrics, New York Medical College, Valhalla, New York, United States
2  Department of Pediatrics, Maria Fareri Children's Hospital at Westchester Medical Center, Valhalla, New York, United States
,
Vinod B. Rao
1  Department of Pediatrics, New York Medical College, Valhalla, New York, United States
2  Department of Pediatrics, Maria Fareri Children's Hospital at Westchester Medical Center, Valhalla, New York, United States
,
Vincent J. Palusci
3  Department of Pediatrics, New York University School of Medicine, New York, New York, United States
,
David Kronn
1  Department of Pediatrics, New York Medical College, Valhalla, New York, United States
2  Department of Pediatrics, Maria Fareri Children's Hospital at Westchester Medical Center, Valhalla, New York, United States
,
Michal Manaster
1  Department of Pediatrics, New York Medical College, Valhalla, New York, United States
2  Department of Pediatrics, Maria Fareri Children's Hospital at Westchester Medical Center, Valhalla, New York, United States
,
Robin Altman
1  Department of Pediatrics, New York Medical College, Valhalla, New York, United States
2  Department of Pediatrics, Maria Fareri Children's Hospital at Westchester Medical Center, Valhalla, New York, United States
› Author Affiliations
Further Information

Publication History

30 March 2018

17 August 2018

Publication Date:
21 September 2018 (eFirst)

Abstract

Unexplained childhood fracture(s) warrant consideration of physical abuse and osteogenesis imperfecta (OI). Genetic OI testing may identify “variants of unknown significance (VUS).” Interpretation of VUS in context of potential abuse may have protective, criminal, and medical impacts. This case series explores practices regarding clinicians' interpretation of VUS during child abuse evaluations. Variability was noted regarding factors considered for interpreting clinical significance. Based on these cases, recommendations for careful and thorough evaluation are detailed, including proposed use of a limited follow-up skeletal survey in 3 months, as a consideration to assess healing of prior fractures and to look for any additional injuries.