PMC6344186_01
Ultrasound findings: (A) at gestational week 24+5: small and narrow thorax (arrowhead), chest circumference 15.6 cm, abdominal circumference 21.1 cm, shorter spine (arrow); (B) at gestational week 24+5: bending and short femur (arrows), thick metaphysis with high echoes (arrowheads); and (C) flat face and nose bridge (arrows).
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F1
At gestational week 24+5, ultrasound examination showed abnormal development of the long bones of the limbs (the length of the long bones was shorter than 1% controlled to the same gestational week of normal fetus), thick metaphysis in the right lower limb, irregular vertebral arrangement, and a narrow and small thorax (Fig. 1 A-D).
Gross images after delivery: (A) front: flat face, bilateral ankle joint contracture (arrowheads), asymmetric short lower limbs (arrows) and (B) back: short limbs, scale-like skin changes (arrow).
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F2
After the termination of pregnancy at week 27, the gross examination of the fetus showed a flat face and nose bridge, short limbs, asymmetric short lower limbs, and bilateral clubfeet with bilateral ankle joint contracture (Fig. 2 A, B).
Post-delivery X-ray: (A) small and narrow thorax (arrows); (B) short limbs (arrows); and (C) asymmetric lower limbs (arrows), punctate changes in the metaphysic (arrowheads).
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F3
X-ray imaging showed short femur and humerus bones, a narrow and small thorax, thick metaphysis with a thick "splashed paint"' pattern, and asymmetric short lower limbs (Fig. 3A-C).
EBP whole exome analysis of the aborted tissue indicated a heterozygous EBP mutation, a known causative mutation; c.440G>A [p.Arg147His]) in the priori (fetus). A Sanger test showed that the patient's parents are non-carriers, indicating that the mutation is de novo. EBP = emopamil binding protein.
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F4
Whole exome analysis showed that the fetus was heterozygous for the EBP mutation (NM_006579.2; C.440G>A p.Arg147His), which must have occurred de novo because the parents were non-carriers (Fig. 4).