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Obstetrics » Obstetrics 2nd And 3rd Trimester
Thanatophoric dysplasia, third trimester
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Author(s) :
Werclein Saldana, MD
Presentation This 18 year old woman, primigravida, presented for a routine antenatal scan at 31 weeks of gestation. She has no significant past medical history.
Caption: Ultrasound scan of the upper extremity
Description: The upper extremity bones appear misshapen and very short for gestational age. Significant redundant soft tissue is also seen in this image.
Caption: Scans demonstrating the forearm and the hand
Description: In this view of the elbow, the redundant soft tissue, primarily thickened integument,is well seen. In the view of the hand, the third and the fourth digits show wide separation.
Caption: Ultrasound image of one of the lower extremities
Description: This image demonstrates the entire length of a lower extremity, emphasizing the shortened and chubby appearance of the limb.
Caption: Sagittal and transverse views of the thorax
Description: This image clearly depicts the discrepancy in size between the thoracic and the abdominal diameter.
Caption: Postnatal radiograph
Description: The postnatal radiograph demonstrates the characteristic feature of thanatophoric dysplasia.
Caption: Postnatal photograph
Description: The characteristic external appearance of the short-limbed skeletal dysplasia is noted here.
Differential Diagnosis Thanatophoric dysplasia, other short-limbed skeletal dysplasias

Final Diagnosis Thanatophoric dysplasia
Discussion A detailed further review on thanatophoric dysplasia is available in TheFetus section [click here to view].
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