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Fig. 1. Axial T1-weighted MR illustration shows rhombencephalosynapsis. Note the absence of the cerebellar vermis with fusion of both cerebellar hemispheres, with the “keyhole-shaped” fourth ventricle Joubert Syndrome Signs on MRI ¼ Absence or severely hypoplastic cerebellar vermis, with fusion of both cerebellar hemispheres. ¼ The fourth ventricle has a characteristic “keyhole appearance” due to the fusion of the cerebellar peduncles and inferior colliculi (Fig. 1). Joubert syndrome (JS) is a neuronal migration disorder of the cerebellum characterized by hypoplasia or agenesis of the superior cerebellar vermis, enlargement of the fourth ventricle, and cystic lesions of the viscera.

Kim OH et al. Intracranial and extracranial MR angiography in Menkes disease. Pediatr Radiol 1997;27:782–784 9. Bekiesinska-Figatowska M et al. Menke’s disease with Dandy-Walker variant: Case report. Neuroradiology 2001; 43:948–950 Chest and Heart Abdomen and Pelvis Musculoskeletal System Phakomatoses Fig. 1. Axial abdominal noncontrast-enhanced CT illustration shows liver contour irregularity, with multiple hyperdense nodules. 15 Cerebellar Anomalies Anomalies of the cerebellum are usually associated with other lesions of the posterior fossa.

These respiratory abnormalities are thought to be caused by dysfunction of the respiratory centers in the medulla oblongata. JS is the only posterior fossa anomaly associated with respiratory abnormalities. 12 C ongenital Cholesteatoma 64 J. A. Al-Tubaikh, M. F. 1 Eagle Syndrome Eagle syndrome (ES) is a disease characterized by cervicofacial pain caused by elongation of the styloid process, which occurs due to extensive ossification of the stylohyoid ligament (Fig. 1). ES is noted to occur in some patients with a previous history of tonsillectomy.

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A score test for the linkage analysis of qualitative and quantitative traits based on identity [...] by Dudoit S., Speed T. P.


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