18p deletion syndrome is a rare disorder which is accompanied with mental retardation, facial abnormalities and short stature. Dystonic findings are rarely seen and only 12 cases have been reported in the literature until now. We report here a 26 year old female complaining of spasms on her trunk and limb muscles. Genetic investigation revealed 18p deletion.
Chromosome 18p deletion syndrome ; Dystonic Disorders

PURPOSE: To evaluate the anterior segment biometric parameters of non-accommodative and accommodative refractive accommodative esotropia (RAE). METHODS: Eighty-one eyes of 81 patients were included in this prospective, case-control study. The patients were divided into three groups as follows: the RAE group (n = 31), the hypermetropia group (n = 25), and the emmetropia group (n = 25). Measurements were obtained in the non-accommodative (0.0 diopters) and accommodative status (-5.0 diopters) using a Pentacam HR. The anterior chamber depth (ACD), anterior chamber volume (ACV), pupil diameter (PD), and anterior chamber angle (ACA) were evaluated at all four quadrants. RESULTS: The ACD, ACV and PD values in the RAE group were lower than those of the other groups in both states (p < 0.05). The ACD values were lower in the hypermetropia group than in the emmetropia group for the non-accommodative status (p = 0.024) but were similar for the accommodative status (p = 0.225). PD and ACV values were lower in the hypermetropia group than in the emmetropia group in both states (non-accommodative status, p = 0.011 and p = 0.022; accommodative status, p = 0.026 and p = 0.034, respectively). Changes in ACD, ACV and PD during accommodation (Δ) were not significant in the RAE group but were significant for the other groups (hypermetropia: ΔACD, p = 0.001; ΔACV, p = 0.001; ΔPD, p = 0.002; emmetropia: ΔACD, p < 0.001; ΔACV, p = 0.001; ΔPD, p < 0.001). These changes were significantly lower in the hypermetropia group than in the emmetropia group (ΔACD, p = 0.012; ΔACV, p = 0.031; ΔPD, p = 0.034). CONCLUSIONS: The anterior chamber in RAE patients was shallower and the increase in convexity of the anterior surface or forward movement of the crystalline lens was more limited during accommodation in RAE.
Anterior Chamber ; Case-Control Studies ; Emmetropia ; Esotropia ; Humans ; Hyperopia ; Lens, Crystalline ; Prospective Studies ; Pupil