PMC6333066_01
Craniosynostosis and facial dysmorphia. Prenatal 3D US (A), postmortem examination, (B) and radiography (C) of fetal face. Lateral view in prenatal 2D US (D), postmortem (E), and radiography (F). B and E. Hypertelorism, midface hypoplasia, micrognathia, down-slanting palpebral fissures. C. Frontal view showing biparietal widening, hypertelorism, upward sloping orbital margins, sphenoid wings (dotted arrow) and open sagittal suture (arrow). F. Lateral views showing brachycephalic skull, highly arched orbital roofs and characteristic appearance of the coronal sutures (arrow)
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ccr31915-fig-0001
The typical malformations were identified by two- (2D) and three-dimensional (3D) US for both fetuses: facial dysmorphia including: hypertelorism, midface hypoplasia, craniosynostosis with brachycephaly, micrognathia, down-slanting palpebral fissures (Figures 1 and 3), and symmetric limbs' extremities abnormalities (mitten hand, enlarged and varus big toe) of the four extremities (Figures 2 and 3).
Abnormalities of the limbs. Prenatal 2D US (A and D), postmortem examination, (B and E) and radiography (C and F). D, E, and F. Enlarged and varus big toe of fetal foot. A, B, and C. Mitten hand with membranous syndactyly of fingers 2-3 and bony syndactyly of fingers 3-4
CCR3-7-54-g002.jpg
PMC6333066_01_CCR3-7-54-g002.jpg
ccr31915-fig-0002
The typical malformations were identified by two- (2D) and three-dimensional (3D) US for both fetuses: facial dysmorphia including: hypertelorism, midface hypoplasia, craniosynostosis with brachycephaly, micrognathia, down-slanting palpebral fissures (Figures 1 and 3), and symmetric limbs' extremities abnormalities (mitten hand, enlarged and varus big toe) of the four extremities (Figures 2 and 3).
Phenotypic comparison of the two fetuses. Postmortem examination of fetus B (frontal view A, lateral view C) and fetus A (frontal view B, lateral view D, left congenital diaphragmatic hernia E)
CCR3-7-54-g003.jpg
PMC6333066_01_CCR3-7-54-g003.jpg
ccr31915-fig-0003
The typical malformations were identified by two- (2D) and three-dimensional (3D) US for both fetuses: facial dysmorphia including: hypertelorism, midface hypoplasia, craniosynostosis with brachycephaly, micrognathia, down-slanting palpebral fissures (Figures 1 and 3), and symmetric limbs' extremities abnormalities (mitten hand, enlarged and varus big toe) of the four extremities (Figures 2 and 3). In addition, fetus A presented a congenital left diaphragmatic hernia and a cleft palate (Figure 3).