case_images: PMC11804221_01
case_images: Clinical and genetic data of proband with Joubert syndrome. (A) The proband's head appearance, with a forehead protrusion. (B) Magnetic resonance imaging of the proband's head. The junction of the midbrain and cerebellum shows a "molar tooth" change (left), and the upper part of the fourth ventricle is enlarged, forming a "bat wing" shape (right). (C) Eye examination of the proband, showing retinitis pigmentosa. (D) Morphological photo of the proband's foot, showing a sixth toe on the left foot. (E) Morphological photo of the proband's hand shows that the patient has six fingers on his left hand. (F) X-ray of the proband's hand, showing a sixth finger with phalanges on the left hand.
case_images: PGPM-18-47-g0001.jpg
case_images: PMC11804221_01_PGPM-18-47-g0001.jpg
case_images: f0001
case_images: The patient exhibited congenital brain developmental abnormalities, externally manifested as a forehead protrusion (Figure 1A). Magnetic resonance imaging revealed elongation and deformation of the midbrain's superior cerebellar peduncles, forming the characteristic "molar tooth sign" on axial views (Figure 1B). Additionally, the patient exhibited retinitis pigmentosa (Figure 1C) and polydactyly, with six fingers on both the left hand and left foot (Figure 1D and E). An X-ray of the patient's hand revealed the development of phalanges on the sixth finger of the left hand (Figure 1F).