Baseline blood tests, tumour markers, autoimmune screening including paraneoplastic antibodies and voltage-gated potassium channel antibodies were also negative. Magnetic resonance imaging revealed multiple abnormal areas of high signal on T2 FLAIR sequencing within the cerebellum, temporal lobes, and ...
by a distinctive form of abnormal skeletal development. The disorder was inherited in both families in an auto- somal-recessive manner (Figure 1). Growth retardation was evident on prenatal ultrasound as early as during the second trimester of pregnancy. Affected individuals ...
Baseline blood tests, tumour markers, autoimmune screening including paraneoplastic antibodies and voltage-gated potassium channel antibodies were also negative. Magnetic resonance imaging revealed multiple abnormal areas of high signal on T2 FLAIR sequencing within the cerebellum, temporal lobes, and ...