PMC5674493_01
Front and side fascial photo of the patient showing characteristic features of WHS (Roman helmet appearance, microcephaly, proptosis, short philtrum, high-arched eyebrows, and big ears with minimal creases).
CRIE2017-3892467.001.jpg
PMC5674493_01_CRIE2017-3892467.001.jpg
fig1
She has the typical fascial features of the syndrome (Figures 1(a) and 1(b)) and had severe learning disability and global developmental delay.
Abdominal CT scan showing solitary left kidney with kidney cyst and nephrocalcinosis.
CRIE2017-3892467.002.jpg
PMC5674493_01_CRIE2017-3892467.002.jpg
fig2
She has a solitary ectopic kidney with nephrocalcinosis and chronic renal failure (Figure 2).