Figure 1.

Characterization of Three Families with Progressive Microcephaly and Intellectual Disability

(A) Family tree of the three families (I–III) presented in this study. Consanguinity (double bar) of families suggests a recessive inheritance of the disease. Note that one individual in family II has been described previously.¹⁶ The procedures followed for recruitment and data collection were in accordance with the ethical standards of the responsible committee on human experimentation at the respective participating institute and proper informed consent was obtained.

(B–E) Panels show MRIs for the affected girl in family I (I-V-3). Shown are sagittal (B-C; T2 weighted), coronal (D; FLAIR), and axial (E; T2 weighted) images. Arrowheads indicate pontocerebellar hypoplasia (B).

(F and G) Panels show T1 weighted MRIs for the affected boy in family II (II-IV-7). Shown are sagittal (F) and axial (G) images. Arrowhead indicates pontocerebellar hypoplasia (F).