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

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• 作者：Gabriele Tonni^a ; ^{tonnig@ausl.re.it} ; Marcella Palmisano^a ; Mario Lituania^b ; Gianpaolo Grisolia^c ; Ave Maria Baffico^d ; Maria Paola Bonasoni^e ; Pierpaolo Pattacini^f ; Claudio De Felice^g ; Edward Araujo Jú ; nior^h
• 关键词：bowing long bones ; chondral plate histology ; molecular biology ; prenatal diagnosis ; radiographic imaging
• 刊名：Taiwanese Journal of Obstetrics and Gynecology
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：55
• 期：6
• 页码：771-776
• 全文大小：2803 K
• 卷排序：55

文摘

Skeletal 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.