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Fig. 1 | BMC Pediatrics

Fig. 1

From: Identification of a novel pathogenic TBCK variant in a Chinese patient with infantile hypotonia with psychomotor retardation and characteristic facies type 3 (IHPRF3): a case report

Fig. 1

Head MRI Findings and photographs of the dysmorphic features Axial T1-weighted FLAIR (Fluid Attenuated Inversion Recovery) images (A) demonstrated widened anterior cerebral longitudinal fissure and enlarged bilateral ventricles. The subarachnoid space in the anterior part of the cerebral hemisphere was also widened. Axial T2-weighted TSE (Turbo Spin Echo) images(B) demonstrated the same imaging presentations. The patient had special facial feature including tented upper lip, exaggerated Cupid’s bow, arched eyebrows, macroglossia, hypertelorism and open mouth (C & D)

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BMC Pediatrics

ISSN: 1471-2431

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