Fig. 1.

Pedigree and clinical features of the family. a Pedigree of the family (arrow points to the proband). b Clinical photographs of the elder sibling of the proband (A-II.1) showing severe microcephaly, low set ears, upslant of eyes, sloping forehead, micrognathia, short nose and flat nasal bridge. c, d MRI of A-II.1 at the age of 4 months showing diffuse cerebral atrophy, thin corpus callosum and normal cerebellum. e, f T2 Axial and coronal MRI images of the proband (A-II.2) at 52 days of life showing minimal diffuse brain atrophy with prominent fissures and sulci and no significant cerebellar atrophy. g, h MRI repeated at 2 years of proband (A-II.2) showing progressive worsening of cerebral and cerebellar atrophy (arrow in H) and thinning of corpus callosum