OBGY Radiology

Case 10
A 35-year-old female presents for a routine second trimester scan. The USG findings revealed a short femur, with other features as depicted in the scan images provided. What is the likely diagnosis?

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Fig 1 Fig 2
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Imaging Findings

Study shows polydactyly (Fig 1) with short ribs (Fig 2). Careful examination of the heart shows an inter-ventricular septum.

Short Rib Syndrome in this case, considering the combination of findings, the final diagnosis is Ellis van Creveld syndrome.

In 1940, Ellis and van Creveld defined a syndrome they referred to as chondro-ectodermal dysplasia. This autosomal recessive condition, now usually referred to as Ellis-van Creveld syndrome (EVC), comprises bilateral postaxial polydactyly, a chondrodysplasia, characterized by shortness of limbs, and ectodermal dysplasia. Congenital heart defects are also common.

The diagnosis of Ellis-van Creveld syndrome in this fetus is based on shortness of long bones as well as hexadactyly diagnosed by prenatal ultrasonography.

Dr. Sabih, Karachi.
Convener, Yahoo Medical Imaging Mailing List