case_images: PMC10729767_01
case_images: Lesional pictures of the patient. (A)The faciocervical mass was about 10-cm x 5-cm in size with a slightly pale surface and a hard texture to the touch. (B)Brown spots of varying sizes were scattered on the surface of the mass.
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case_images: She was transferred to our department at age 28 days because of the faciocervical mass (Figure 1A). Brown spots of varying sizes were scattered on the surface of the mass (Figure 1B).
case_images: Ultrasound image of the patient. Ultrasound revealed a diffuse solid hypoechoic nodule around the left parotid gland and left neck with unclear boundaries, irregular morphology, and uneven internal echoes.
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case_images: CALMs were visible throughout the patient's body. Color Doppler ultrasound revealed a diffuse solid hypoechoic nodule around the left parotid gland and left neck with unclear boundaries, irregular morphology, and uneven internal echoes (Figure 2).
case_images: PMC10729767_02
case_images: This is the familial intellectual disability genetic genealogy.
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case_images: The child's paternal lineage has familial intellectual disability (Figure 3).
case_images: Sanger sequencing confirmed that the patient's NFl gene underwent mutations. The red arrow indicated the NF1 gene mutation site.
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case_images: Further Sanger sequencing confirmed that the patient's NFl gene underwent mutations (Figure 4).