PMC6854001_01
PMC6854001_02
PMC6854001_03
Occipitofrontal head circumference of the patient. The measurement of 43.5 cm at age 7 was in the 1.00 percentile and below -3 SD.
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F1
Upon examination, delayed speech development and microcephaly with an occipitofrontal head circumference of 43.5 cm (<-3SD, Figure 1) were noted.
Brain magnetic resonance imaging (MRI) of the patient, showing microcephaly and simplified gyrus of the cerebral cortex. (A) Axial T1-weighted image; (B) sagittal T1-weighted image; (C) coronal T1-weighted image.
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F2
Reverse DNA sequence chromatography for the patient and her parents. (A) c.883-4_890del. (B) c.1684C>G.
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F3
The patient's mother possessed mutations in the WDR62 gene boundary of intron 7 and exon 8 (NM_001083961.1: c.883-4_890del), as shown in Figure 3A, while her father possessed variant in the WDR62 gene at exon 13 (NM_001083961.1: c.1684C>G), as shown in Figure 3B.