Case of the Week # 71

Moshe Bronshtein MD and Etan Z. Zimmer MD

April 19 - May 2, 2002

Department Obstetrics Gynecology, Rambam Medical Center, Haifa, 31096 Israel

This case involves few images. the first 2 images are comparison images between a normal case and a fetus with a common syndrome (I do not identify which is the normal fetus, and which is the affected fetus). What is the anomaly that is represented in this fetus aside from hypoplastic nasal bones.

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The second finding in this baby is a set of scan of the genitalia at 14, 16 and 22 weeks. These include coronal and axial images.

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What is the facial finding, and the finding at the level of the genitalia ? Note you are welcome to suggest the syndrome but I will not count the syndrome name as a correct answer.

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Answer

This case involves few images. the first 2 images are comparison images between a normal case (on the right) and a fetus with trisomy 21 on the left (note the hypoplastic nasal bones and the relative micrognathia).

The special observation in this case is the lack or hypotrophy of the alveolar buds. Hypodontia and dental anomalies are known features of Trisomy 21.

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The second finding in this baby is a set of scan of the genitalia at 14, 16 and 22 weeks. These include coronal and axial images that demonstrate the "tulip" sign of hypospadias (Meizner I, Mashiach R, Shalev J, Efrat Z, Feldberg D. The "tulip sign": a sonographic clue for in-utero diagnosis of severe hypospadias. Ultrasound Obstet Gynecol. 2002 Mar;19(3):250-3.)

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And the postnatal appearance:

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So this fetus presented several signs of trisomy 21, including the hypoplasia of the nasal bone, hypodontia, micrognathia, and hypospadias.

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