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

Abstract

ObjectiveSkeletal dysplasia with bowing long bones is a rare group of multiple characterized congenital anomalies. Materials and MethodsWe introduce a simple, practical diagnostic flowchart that may be helpful in identifying the appropriate pathway of obstetrical management. ResultsHerein, 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. ConclusionTargeted molecular tests and genetic counseling are required for supplementing ultrasound imaging in order to diagnose the correct skeletal disorders.