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. 2024 Nov 5;9:55. doi: 10.1038/s41525-024-00437-5

Fig. 2. Clinical features of the patients homozygous for GON4L variants.

Fig. 2

Photographs of the face of Patient 1 at the age of 10 months (a) and 9 years and 6 months (b). He showed left microphthalmia. c Brain MRI of Patient 1 at the age of 5 months showed simplified gyral pattern. d Three-dimensional cranial CT images of Patient 1 at 10 months indicated metopic craniosynostosis. e Full picture of Patient 2 (left) and 3 (right). f, g Front and side of the face of Patient 2 at the age of 13 years old. She showed asymmetric face, a high forehead, thick eyebrows, upward slanting palpebral fissures, strabismus, broad nasal root, a broad nose with a beaked tip, deviated nasal septum, a prominent left cheek, short philtrum, thin upper lip, everted lower vermillion, broad chin, and low-set ears with folded helix. h, i Front and side of the face of Patient 3 at the age of 8 years. He shows dysmorphic features similar to Patient 2. Long fingers (j) and deviated feet with pes planus (k) of Patient 2. l, m Dorsum and palma of the hand with incomplete single transverse crease of Patient 3. Brain MRI of Patient 3 at the age of 6 [Axial T1- (n) and Sagittal T2-weighted (o)]. Deep Sylvian fissure is indicated by an arrow.