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2005-04-26-13 Answer to Case of the week #144 © Cuillier
Answer to Case of the week #144

June 2 - June 16, 2005

Dr.Cuillier F 1,  Dr Bideault J.2, Dr Alessandri J.L. 3 , Dr Cartault J.F.4 

1.Dept of Obstetrics and Gynecology, Hôpital Félix Guyon, rue des Topazes, 97400 Saint-Denis, Reunion Island, France. Ph : 0262 90 55 22.
2. Department of Obstetric, Hôpital Communal, 97400 Saint-Benois,Réunion island, France.
3. Department of Neonatology, Hôpital Félix Guyon, 97400 Saint-Denis, Réunion island, France.
4. Department of Cytogenetic, Hôpital Félix Guyon, 97400 Saint-Denis,Réunion island, France.

A 30-year-old woman G5, P4 presented for a routine ultrasound scan. Her obstetric history was significant for postnatal fetal loss at 5 months of age, due to ? metabolic illness. These are serial ultrasound scans that have been performed at 23, 32 and 34 weeks of gestation: 

Scan at 23 weeks of gestation:

Long bones:

Profile view of the face: A flat mid-face is seen.

2-D and 3-D scans of the femur: Punctate epiphyeal calcifications are seen as marked.

Images of the fetal spine: Punctations are seen.

3-D and 2-D views of the face at 32 weeks of gestation:

View of the right eye at 32 weeks: A cataract can be seen.

View of the femur at 34 weeks of gestation:

Fetal biometric chart of the long bones:

As a chromosomal abnormality could not be excluded, an amniocentesis was performed (46 XY and 4p deletion: Wolf-Hirschhorn syndrome was eliminated). The parents decided to continue this pregnancy and at 37 weeks of gestation, the baby was delivered by a ceaserean section.

Postnatal photographs of the baby: Note the flattened appearance of the face and facial dysmorphism.

Photographs of the legs show arthrogryposis:

The baby was a male rhizomelic dwarf weighing 2510 g. Radiographs confirmed the anomalies along with epiphyseal punctations that were noted in the femorae and spine. Radiographs showed rhizomelic limb shortening. The humeri and the femorae were short, dumb-bell shaped and flared at the metaphyses. Stippled
epiphyseal calcifications were marked in the shoulders and hips and were also noted in the thoracic spine. The baby died on day 50. The parents refused an autopsy. A diagnosis of Chondrodysplasia punctata, rhizomelic  was made.

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