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2014-07-01-17 Answer to the case of the week #378 © Cuillier 

Answer to the case of the week #378

September 18, 2014 - October 02, 2014

Fabrice Cuillier, MD1; D. Mardamootoo2; Y. Rio, MD3; J. L. Alessandri, MD4.

1. Gynecology, Hôpital F. Guyon, 97400 Saint-Denis, Réunion, France;
2. Midwife, Hôpital F. Guyon, 97400 Saint-Denis, Réunion;
3. Private institute, Chaussee royale, 97434 Saint-Paul, Réunion, France; 
4. Neonatologist unit, Hôpital F. Guyon, 97400 Saint-Denis, Réunion, France.


Case report

A 28-year-old woman (G1P0 from Reunion Island) was referred to our clinic at 12 weeks of gestation. No consanguinity or other remarkable diseases in her anamnesis were noted. The patient was not exposed to any teratogenic substances or drugs.

Our ultrasonographic examination revealed several abnormal findings:

- severe fetal hydrops;
- shortened fetal extremities (severe micromelia);
- narrow, barrel-shaped fetal thorax with suspected fusions of the ribs;
- small defects of ossification within the cranial bones;
- numerous calcifications within cerebellum;
- irregular ossification of the ribs with ectopic calcifications;
- calcifications within fetal liver;
- postaxial polydactyly (hexadactyly with bifid thumb) of the hands.

Triple test was normal. Amniocentesis revealed normal karyotype (46, XX). The findings were suspected of lethal skeletal dysplasia and the parents opted for the termination of the pregnancy.

Post-abortion examination of the fetus confirmed severe hydrops with cystic hygroma and micromelia. Radiogram of the fetus was also done and found defective irregular ossification of the fetal bones ("moth-eaten" appearance).

Patho-histological examination of the fetus found ectopic ossifications in the larynx, cerebellum, vertebral bodies and ribs. Postaxial polydactyly with bifid thumb of the left hand and postaxial polydactyly of the right hand was found. Syndactyly of the feet was also found.

The combination of the fetal hydrops with 
abnormal calcium deposits (ectopic calcifications) in various parts of the body, radiographic moth-eaten appearance of the bones, polydactyly and severe micromelia lead us to the diagnosis of Greenberg dysplasia (hydrops-ectopic calcification-moth-eaten skeletal dysplasia - HEM).

For those who have followed the "Difficult cases" lecture, this is a great demonstration of the use of OMIM. If we use the simple keywords: 

short limbs hydrops polydactyly calcifications 

in the OMIM search box, the result is the first listed:

Images 1, 2, 3, 4, and 5: the images show transverse scans of the fetal skull with small defects of ossification within the skull bones (arrows) and massive  nuchal edema.



Images 6, 7: coronal scans of the fetal head showing abnormal multiple calcifications within cerebellum; nuchal edema can be also seen.


Image 8: transverse scan of the fetal neck with massive nuchal edema.

Images 9, 10, 11, and 12: Transverse and coronal scans of the fetal thorax: irregular ossification of the ribs with ectopic calcifications (arrow on the image 11) can be seen. Image 12 shows 
narrow, barrel-shaped fetal thorax.



Images 13, 14, 15, and 16: the images show abnormally short fetal limbs (micromelia).


Images 17, 18, 19, 20, 21, and 22: the images show postaxial polydactyly of the fetal hands (bifid thumb was also suspected and later confirmed by pathological examination of the fetus). 




Images 23, 24: Transverse scans of the fetal abdomen showing irregular calcifications within fetal liver, ascites and skin edema.


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