Skip to main content
Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation

Figure 1

Clinical features of MCPH3 patients with novel CDK5RAP2 gene mutation. (A) Pedigree of the Italian family: the parents were third degree cousins. (B) Development of the OFC of both patients, from age 2 months to 5 years in patient 1 (triangles) and birth to 3 years 10 months in patient 2 (dots) (centiles refer to WHO Child Growth Standards) [10, 11]. The OFC of patient 2 was below −3.5 SD at birth and further decreased to about −6.4 SD by the age of 3 years and 10 months. (C) T1/2-weighted magnetic resonance images (MRI) of patient 1 at age 2,5 months (5–8) and patient 2 at 3 months (9–12) compared to those of a healthy 3-year old boy. The reduced size of the brain with extra-axial spaces (5, 7, 9–11), sloping forehead (6, 7, 11), simplified gyral pattern frontally with shallow, wide sulci (5, 7, 9) and corpus callosum agenesis (6) and hypogenesis (10) are apparent.

Back to article page