Wrinkly skin syndrome

We report a 2‐year‐old girl with wrinkly skin syndrome (WSS). At birth, she was noted to have a large head with a large anterior fontanelle and facial dysmorphism with no raised intracranial pressure (Fig. 1e). At the age of 1 year, she manifested developmental delay with a length of 68 cm (2nd centile), weight 6 kg (< 0.4th centile) and head circumference of 48 cm. By the age of 2 years, she manifested the typical features of the syndrome which included skin wrinkling on the dorsa of the hands, feet and anterior abdominal wall, prominent veins on the chest (Fig. 1a‐‐c), and hyperextensibility of small joints of the hands and feet. She had a triangular senile‐looking face with hypotelorism, a prominent bulbous nose, large protruding ears and brachycephaly (Fig. 1d). At 2 years of age, she has just started to walk and can say a few words. Her parents are of Palestinian origin and are cross first cousins (the proband's maternal grandfather and paternal grandmother are siblings). Electrophysiology and nerve conduction studies revealed prolonged visual evoked potentials and mild left conductive hearing impairment. Chromosome analysis revealed a normal 46XX female karyotype. Magnetic resonance imaging of the brain showed agenesis of the corpus callosum with resulting absence of the cingulate gyrus and sulcus, and a high third ventricle with colpocephaly.