Fig. 1
From: Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy
Typical clinical features in patients. a–c Characteristic facial features including cataract extraction (b), microphthalmia, deep set eyes, and tented upper lip in two affected individuals (III-3, IV-4). Patient III-3 is shown at age of 1.5 years (b) and 3 years (c). d Severe truncal hypotonia featured by “frog-like” lying position. e Lower limb hypertrichosis. f Gastrostomy tube as well as vascular skin changes (livedo reticularis). g T1-sagital MR in patient III-3 showing hypoplastic corpus callosum (red arrow), cerebellar atrophy (yellow arrow), and cortical atrophy. h T2-axial magnetic resonance in patient IV-4 showing global cortical atrophy as manifested by enlarged ventricles (yellow arrow) and wide open Sylvian fissures consistent with temporal atrophy (red arrow)
