Movement Disorders
Fragile X-associated tremor/ataxia syndrome
Jun. 19, 2024
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Acetabulum development in mucolipidosis II/III
In the leftmost column, anterior-posterior x-rays are shown of hemipelvises of healthy controls at age 2, 4, and 8 years. These are placed next to age-matched x-rays of hemipelvises from two patients with mucolipidosis II (center column) and one patient with mucolipidosis III (rightmost column). The pelvic bones are abnormally shaped in all patients, with flared iliac wings and with a hypoplastic basis of the os ilium. The acetabula are dysplastic in all patients, as indicated by a white arrow at the outer border of the acetabulum. The shape of the acetabulum is the most dramatically altered and severely dysplastic in the mucolipidosis II patient (center column). In all patients, the femoral head is too large to fit in this dysplastic acetabulum. There is flattening and enlargement of the femoral head. The abnormal growth of the femoral head results in a valgus position of the femoral neck. (Source: Oussoren E, Wagenmakers MA, Link B, et al. Hip disease in mucopolysaccharidoses and mucolipidoses: a review of mechanisms, interventions and future perspectives. Bone 2021;143:115729. Image edited by Douglas J Lanska MD MS MSPH to exclude cases with mucopolysaccharidoses that were included in the original figure. Creative Commons Attribution [CC BY] license. http://creativecommons.org/licenses/by/4.0.)