case_images: PMC1774563_01
case_images: Proband phenotype.
case_images: 1750-1172-2-2-1.jpg
case_images: PMC1774563_01_1750-1172-2-2-1.jpg
case_images: F1
case_images: On examination at nine months of age (Figure 1), the child had a normal motor development and hearing, but the coordination was impaired.
case_images: Proband phenotype and hands: Subtotal absence of the phalanges (preservation of the hypoplastic thumbs and hypoplastic 5th fingers, respectively).
case_images: 1750-1172-2-2-2.jpg
case_images: PMC1774563_01_1750-1172-2-2-2.jpg
case_images: F2
case_images: Although the chest was normal (no associated Poland anomaly), the hands were abnormal with a sub-total absence of the phalanges and preservation of hypoplastic thumbs and hypoplastic 5th fingers (Figure 2).
case_images: Sagittal MRI imaging, showed markedly hypoplastic tongue.
case_images: 1750-1172-2-2-3.jpg
case_images: PMC1774563_01_1750-1172-2-2-3.jpg
case_images: F3
case_images: The sagittal magnetic resonance imaging (MRI) showed a hypoplastic tongue but no associated Arnold-Chiari malformation was detected (Figure 3).
case_images: 3D reconstruction CT scan ; Hypoplastic anterior arch of the atlas and the impacted os terminale of the odontoid (arrow) between the two halves of the maldeveloped anterior arch of the atlas-the os terminale usually fuses at 12 years of age-this can be confused with fracture.
case_images: 1750-1172-2-2-4.jpg
case_images: PMC1774563_01_1750-1172-2-2-4.jpg
case_images: F4
case_images: Severe myopia (-8 diopters), shortness of the neck and torticollis have been found and was investigated accordingly (Figures 4, 5, 6).
case_images: 3D sagittal CT scan; Agenesis of the posterior arch of the atlas (arrow-a). Arrow (b) notes the Wachenheim clivus line, which is drawn along the posterior aspect of the clivus toward the odontoid process; in our patient the line does not intersect or is it tangential to the odontoid process. The latter confirms the existence of progressive craniocervical abnormality.
case_images: 1750-1172-2-2-5.jpg
case_images: PMC1774563_01_1750-1172-2-2-5.jpg
case_images: F5
case_images: Severe myopia (-8 diopters), shortness of the neck and torticollis have been found and was investigated accordingly (Figures 4, 5, 6).
case_images: 3D reconstruction CT scan showed agenesis of posterior arch of the atlas.
case_images: 1750-1172-2-2-6.jpg
case_images: PMC1774563_01_1750-1172-2-2-6.jpg
case_images: F6
case_images: Severe myopia (-8 diopters), shortness of the neck and torticollis have been found and was investigated accordingly (Figures 4, 5, 6).