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Fig. 5 | Orphanet Journal of Rare Diseases

Fig. 5

From: Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

Fig. 5

Prenatal MR-imaging at 23 weeks of gestational age of a patient with Walker-Warburg syndrome (patient 27). a shows kinking of the brainstem and flattening of the pons. b (axial section) and c (coronal section) demonstrate extensive enlargement of the internal ventricles (a, c: true fast imaging with steady state precession [TrueFISP]; b: half-fourier acquisition single-shot turbo spin echo [HASTE]). Of note: mostly absent gyration is regular at that early week of gestation, thus diagnosis of lissencephaly here not appropriate

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