PMC3981235_01
Hypoplastic lower right limb with malformed foot (arrow).
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A detailed sonographic examination detected caudal dysplasia with hypoplastic lower limbs (Figure 1) as well as an intra-abdominal cystic formation (Figure 2A), which was thought to correspond to the gastric bubble.
A) Ultrasound image of intra-abdominal cyst corresponding to the distended stomach (arrow); B) Fetal abdomen macroscopic examination: distended stomach (arrow).
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A detailed sonographic examination detected caudal dysplasia with hypoplastic lower limbs (Figure 1) as well as an intra-abdominal cystic formation (Figure 2A), which was thought to correspond to the gastric bubble. The fetal patho-histological study confirmed the sonographic findings and revealed additional multiple malformations: low-set ears, hypoplastic unilobated lungs, absent spleen, hypertrophic pyloric stenosis with marked stomach distension (Figure 2B), horseshoe dysplastic and cystic kidney with a single ureter, rudimentary bladder, bilateral intraabdominal testes, urethral and anal atresia, distended bowel, recto-perineal fistula and ambiguous genitalia.
Fetal lateral view: upper limbs macroscopically normal; asymmetric lower limbs with absent foot and rudimentary leg on the left. Umbilical cord with three vessels and a lateral placental insertion.
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Placental weight and maturity were considered appropriate for the gestational age (Figure 3).
Syndactyly with lobster claw malformation of the right foot.
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Fetal x-ray revealing absent lower limb bones on the left and hypoplastic right femur (arrow).
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Absent pelvic bones on the left and hypoplastic on the right were also reported (Figure 5).