Fig. 1

Patient photographs and MRI images. (a) Photographs of individual 1 show no obvious dysmorphism. (b) Photographs of individual 2 with sloping forehead, a large nose with a high nasal bridge, synophrys, long palpebral fissures, and large ear lobes. (c) Photographs of individual 5 with sloping forehead, a long nose with a high nasal bridge, long palpebral fissures, and low-set ears. (d) Cranial MRI of individual 2 showing reduced cerebral volume, consecutively enlarged internal and external cerebrospinal fluid spaces and leukodystrophy. (e) Cranial MRI of individual 4 showing reduced cerebral volume, consecutively enlarged internal and external cerebrospinal fluid spaces and leukodystrophy. (f) Cranial MRI of individual 5 showing reduced cerebral volume and cerebellar atrophy, mesial temporal sclerosis and parahippocampal white matter intensities. Arrows indicate the most prominent brain anomalies. MRI, magnetic resonance imaging.