case_images: PMC9886669_01
case_images: (A) Transabdominal ultrasound at 12 weeks shows a large cystic hygroma. (B) Flexion contracture of lower limb and edema.
case_images: fgene-14-1005624-g001.jpg
case_images: PMC9886669_01_fgene-14-1005624-g001.jpg
case_images: F1
case_images: The fetus had a markedly increased nuchal translucency (NT) of 11 mm and absence of nasal bone (NB) (Figure 1A), edema and bilateral fixed flexion deformities of the knees and elbows (Figure 1B), vertical wrists, and a cyst in the right choroid plexus.
case_images: The measurement of Maxilla-nasion-mandible angle (MMF, 62.02 ) (red arrow).
case_images: fgene-14-1005624-g002.jpg
case_images: PMC9886669_01_fgene-14-1005624-g002.jpg
case_images: F2
case_images: In particular, micrognathia was observed, and we measured the mandibulomaxillary facial (MMF) angle as 62.02  by three-dimensional (3D) US and clearly observed contracture of upper limb (Figure 2).
case_images: Stillbirth phenotypes: (A) Nuchal cystic hygroma. (B) Contractures of the extremities and vertical wrist. (C) Pterygium of antecubital and popliteal regions. (D) Side view: Pterygia of neck, low-set ears, micrognathia and gaping mouth.
case_images: fgene-14-1005624-g003.jpg
case_images: PMC9886669_01_fgene-14-1005624-g003.jpg
case_images: F3
case_images: Postartum fetus was noted to have multiple dysmorphic features (Figure 3), viz., nuchal cystic hygroma, contractures of the extremities, bilateral fetal talipes, subscalp hemorrhage, and short neck as well as spina bifida.