PMC3652099_01
A 4-year-old girl presenting typical craniofacial TRPS features: fine hair, a bulbous nose, long philtrum, thin lips, and a receding chin.
CRIM.GENETICS2013-748057.001.jpg
PMC3652099_01_CRIM.GENETICS2013-748057.001.jpg
fig1
She presented a lighter complexion than her family, with blue eyes and blonde hair (Figure 1).
Photograph and radiograph of a 4-year-old girl's hands, showing short metacarpals and metaphyseal concavity involving the proximal phalanges of the thumb and small finger and all the middle phalanges.
CRIM.GENETICS2013-748057.002.jpg
PMC3652099_01_CRIM.GENETICS2013-748057.002.jpg
fig2
Radiographic studies revealed abnormal proximal and middle phalanges of toes and fingers (Figure 2).