Case of the week #631

Fabien Ho (1), Maeva Landry (2), Valerie Leroy (3), Camille Cramez (4), Anne-Lise Alary (5), Javier Cortejoso (6)
(1) Radiologist, Imagerie Capricorne, Prenatal Diagnosis Center; (2) Obstetrician, CHU La Reunion, Prenatal Diagnosis Center; (3) Pediatric Nephrologist, CHU La Reunion, Prenatal Diagnosis Center; (4) Resident, Mayotte Hospital; (5) Sonographer, Mayotte Private Sector; Reunion Island; (6) Centro Médico Recoletas, Valladolid, Spain

Posting Dates: Jun 30, 2025 - Jul 14, 2025

20-year-old primigravid woman, presented late for prenatal care at 29 weeks gestation. There was no consanguinity, and no pertinent past medical or familial history. We found the following anomalies:

Axial image of the abdomen
Image 1 Axial image of the abdomen
Image 2
Axial image of the abdomen
Image 3 Axial image of the abdomen
Axial image of the perineum
Image 4 Axial image of the perineum
Coronal image of the thorax and abdomen
Image 5 Coronal image of the thorax and abdomen
Sagittal image of the face
Image 6 Sagittal image of the face

At 36 weeks gestation, the abdominal findings were unchanged however, the bones appeared short (<1st percentile) and the spine had an unusual appearance, therefore a computed tomography was performed at 37 weeks gestation.

Axial image of the abdomen
Image 7 Axial image of the abdomen

Image 8
Image 9
Image 10
Image 11
Axial image of the fetal abdomen
Image 12 Axial image of the fetal abdomen
Axial image of the fetal abdomen
Image 13 Axial image of the fetal abdomen
Axial image of the fetal pelvis
Image 14 Axial image of the fetal pelvis
Sagittal image of the fetal thorax, abdomen, and pelvis
Image 15 Sagittal image of the fetal thorax, abdomen, and pelvis
Sagittal image of the left fetal flank
Image 16 Sagittal image of the left fetal flank

What is your diagnosis ?

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