case_images: PMC11697674_01
case_images: Morphological studies on Fetal Ultrasonic image at 28 GW. (A) Hepatosplenomegaly (measurements over + 2 SD). (B) Fetal profile with blue arrow pointing to the broad philtrum. (C) Peritoneal echogenic punctuation above the stomach (blue circle)
case_images: 12884_2024_7115_Fig1_HTML.jpg
case_images: PMC11697674_01_12884_2024_7115_Fig1_HTML.jpg
case_images: Fig1
case_images: Ultrasound examination at 24.0 GW revealed hepatosplenomegaly (Fig. 1A) and dysmorphic features, including a long and broad philtrum (Fig. 1B), as well as a few echogenic spots in the liver, spleen, peritoneum, and thymus (Fig. 1C).
case_images: Post-termination studies. (A) External examination post-medical abortion at 35 GW; coarse facial features with broad philtrum, broad nasal tip, micrognathia, thin upper lip vermilion, hypertelorism, plagiocephaly, microretrognatism, full and drooping cheeks, bulging or forward-projecting philtrum, large, badly hemmed ears with bulky lobes, bulging eyes, marked suborbital folds. (B) Optical microscopic image showing vacuolization of Hofbauer cells (H&E stain; x100)
case_images: 12884_2024_7115_Fig2_HTML.jpg
case_images: PMC11697674_01_12884_2024_7115_Fig2_HTML.jpg
case_images: Fig2
case_images: External examination confirmed hepatomegaly, with hepatic overhang of 4 cm and dysmorphic features, including coarse facial features, bulging or forward-projecting philtrum, broad nasal tip, micrognathia, thin upper lip vermilion, hypertelorism, plagiocephaly, microretrognatism, full and drooping cheeks, large, badly hemmed ears with bulky lobes, bulging eyes and marked suborbital folds (Fig. 2A). Placenta analysis showed single umbilical artery and micro vacuolized appearance of Hofbauer cells, compatible with lysosomal overload (Fig. 2B).