PMC1774563_01
Proband phenotype.
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F1
On examination at nine months of age (Figure 1), the child had a normal motor development and hearing, but the coordination was impaired.
Proband phenotype and hands: Subtotal absence of the phalanges (preservation of the hypoplastic thumbs and hypoplastic 5th fingers, respectively).
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F2
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).
Sagittal MRI imaging, showed markedly hypoplastic tongue.
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F3
The sagittal magnetic resonance imaging (MRI) showed a hypoplastic tongue but no associated Arnold-Chiari malformation was detected (Figure 3).
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.
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F4
Severe myopia (-8 diopters), shortness of the neck and torticollis have been found and was investigated accordingly (Figures 4, 5, 6).
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.
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F5
Severe myopia (-8 diopters), shortness of the neck and torticollis have been found and was investigated accordingly (Figures 4, 5, 6).
3D reconstruction CT scan showed agenesis of posterior arch of the atlas.
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F6
Severe myopia (-8 diopters), shortness of the neck and torticollis have been found and was investigated accordingly (Figures 4, 5, 6).