PMC9149365_01
(A,B) Prenatal ultrasound image of fetus at 34 + 3 weeks showing IUGR (A) and microcephaly (B). MR image of the 2-month-old patient. (C) T1-weighted image (T1WI) of median sagittal section showing thin corpus callosum, splenium, and unclear body (white arrow). (D) T1WI axial section absent of high signal of bilateral posterior limbs of the internal capsule showing hypomyelination (white arrow). (E) Sanger sequencing results of the proband and her parents. The single-nucleotide substitution is indicated by the red arrow. (F) Deletion in the proband was inherited from the father (red arrow). (G) Schematic presentation of linear SMPD4 transcript (NM_017951.4) (up) and protein (down) with all variants reported.
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F1
Ultrasound examination revealed IUGR and microcephaly at 34 + 3 weeks with an estimated fetal weight of 1,695 g (-2.7 SD) (Figure 1A) and a head circumference of 274 mm (-3.6 SD) (Figure 1B). An MRI revealed a thin corpus callosum (Figure 1C), hypomyelination (Figure 1D), and decreased craniofacial ratio.