Answer to the case of the week #250

August 20 - September 3, 2009

Emmanuel Julien, MD.

France.

Case report

A 37-year-old woman (G1P0), from a nonconsanguineous couple (50 year old husband), with a non contributive history, was referred to our center at 35 week due to the short fetal femurs. Her first and second trimester scans were normal.

Our ultrasound examination revealed macrocephaly (90th percentile) and micromelia raging around the 1st percentile (femur 58 mm; tibia 49 mm; humerus 52 mm; and radius 44 mm). The fetal face was flat. The chest looked normal and no other anomaly was found. The amount of amniotic fluid was normal.

An amniocentesis was done and excluded the FGFR3 related anomalies. Fetal X-ray images showed characteristic vertebral anomalies (ovoid flattened vertebrae with narrow intervertebral disks), hypomineralized os pubis and flat hypomineralized epiphyses.

Our presumed diagnosis was spondyloepiphyseal dysplasia.

The parents opted for the termination of the pregnancy and the postmortal findings confirmed the diagnosis of spondyloepiphyseal dysplasia. There was no cleft palate, but retrognathia was observed.

Images 1, 2: 3D images showing the flat fetal face with retrognathia.

 

Images 3, 4, 5, 6, and 7: Sagittal scans of the fetal face showing the flat facial profile and retrognathia.

 

 

Images 8, 9, 10, 11, 12, and 13: The images show shortened long bones of the fetus.

 

 

 

Image 11: The image show flattened intervertebral spaces and flattened vertebrae.

Images 12, 13, and 14: Postmortal X-ray images of the fetal skeleton. Note the flattened ovoid vertebrae, narrow intervertebral disks and lack of ossification of the os pubis. 

 

Image 15: Image shows the fetus after termination of the pregnancy.

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