Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration

Abstract

Objective: Skeletal dysplasia with bowing long bones is a rare group of multiple characterized congenital anomalies.

Materials and methods: We introduce a simple, practical diagnostic flowchart that may be helpful in identifying the appropriate pathway of obstetrical management.

Results: Herein, we describe four fetal cases of bent bony dysplasia that focus on ultrasound findings, phenotype, molecular tests, distinctive X-ray features, and chondral growth plate histology. The first case was a typical campomelic dysplasia resulting from a de novo mutation in the SOX9 gene. The second fetus was affected by osteogenesis imperfecta Type II carrying a mutation in the COLA1 gene. The third case was a rare presentation of campomelic dysplasia, Cumming type, in which SOX9 examination was normal. Subsequently, a femoral hypoplasia unusual facies syndrome is also discussed.

Conclusion: Targeted molecular tests and genetic counseling are required for supplementing ultrasound imaging in order to diagnose the correct skeletal disorders.

Keywords: bowing long bones; chondral plate histology; molecular biology; prenatal diagnosis; radiographic imaging.