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Volume 8
Issue 6
10.3390/children8060512
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Case Report

Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta

by
Michael F. Holick
1,*,
Arash Shirvani
1 and
Nipith Charoenngam
1,2
1
Section Endocrinology, Diabetes, Nutrition and Weight Management, Department of Medicine, Boston University School of Medicine, Boston, MA 02118, USA
2
Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
*
Author to whom correspondence should be addressed.
Academic Editor: Vito Pavone
Children 2021, 8(6), 512; https://doi.org/10.3390/children8060512
Received: 15 April 2021 / Revised: 2 June 2021 / Accepted: 3 June 2021 / Published: 17 June 2021
(This article belongs to the Collection Novel Treatments, Approaches, Prevention Strategies and Insights in Pediatric, Adolescent, and Gynecological Endocrinology)
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Abstract

Intrauterine fractures are a rare clinical finding caused by abnormal early-life osteogenesis. In this case report, we reported a male infant with twenty-three intrauterine/fetal fractures resembling osteogenesis imperfecta and tested negative for COL1A1 and COL1A2 mutations. The infant’s mother had Ehlers–Danlos syndrome, hypermobility type. Whole-genome sequencing revealed that there were no pathologic mutations previously documented to be associated with intrauterine fracture. Genetic mutations reported to be associated with fragility fractures were identified. These include the pathogenic homozygous mutation in the CCDC134 gene. Other genetic variants that might be responsible for variable expressivity of the skeletal manifestation include the homozygous variants of the genes CCDC134, COL15A1 and ZFPM1, and the heterozygous variants of the genes MYH3, BCHE, AUTS2. This is the first reported case of in utero fractures, that was confirmed by X-ray after birth, in an infant who had no genetic evidence for osteogenesis imperfecta, had a homozygous pathogenic mutation of an osteogenesis gene and whose mother had Ehlers-Danlos syndrome hypermobility type. Therefore, we have identified a new genetic cause for in utero fractures. If after birth, this infant were found to have these fractures in various stages of healing with a negative genetic test for osteogenesis imperfecta he would have been misdiagnosed as due to nonaccidental trauma. View Full-Text
Keywords: osteogenesis imperfecta; multiple fractures; intrauterine fracture; infantile fracture; posterior rib fractures; Ehlers–Danlos syndrome; genetic mutation; nonaccidental trauma; child abuse osteogenesis imperfecta; multiple fractures; intrauterine fracture; infantile fracture; posterior rib fractures; Ehlers–Danlos syndrome; genetic mutation; nonaccidental trauma; child abuse
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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MDPI and ACS Style

Holick, M.F.; Shirvani, A.; Charoenngam, N. Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta. Children 2021, 8, 512. https://doi.org/10.3390/children8060512

AMA Style

Holick MF, Shirvani A, Charoenngam N. Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta. Children. 2021; 8(6):512. https://doi.org/10.3390/children8060512

Chicago/Turabian Style

Holick, Michael F., Arash Shirvani, and Nipith Charoenngam. 2021. "Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta" Children 8, no. 6: 512. https://doi.org/10.3390/children8060512

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