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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report

Fig. 2

Musculoskeletal anomalies: A and B skeletal Xray and photo of case 16, that showed marked kyphosis with pectus carinatum in the upper half of the sternum and excavatum in the lower half. C and D MRI performed on case 1. The patient presented a Chiari malformation type I with a protrusion of cerebellar tonsils through the foramen magnum of 11 mm. Presence of syringomyelic cavity in the cervical spine, affecting the tract C5–C7

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172