PMC4533830_01
Pictures of our patient at 111/2 years of age. Our patient exhibited mild frontal bossing, hypertelorism, prominent eyes, bilateral epicanthal folds, a broad nasal bridge, malar hypoplasia, and slightly low set and posteriorly rotated ears.
nihms-240150-f0001.jpg
PMC4533830_01_nihms-240150-f0001.jpg
F1
The proband is an 111/2-year-old girl (Fig. 1) with a history of myopia, Duane retraction syndrome, bilateral mixed hearing loss, skeletal anomalies including multiple epiphyseal dysplasia, and global developmental delay. She was noted to have several minor dysmorphic features, including mild frontal bossing, hypertelorism, prominent eyes, bilateral epicanthal folds, a broad nasal bridge, malar hypoplasia, and slightly low-set and posteriorly rotated ears (Fig. 1).
Radiograph of patient at 10 years of age. AP view of pelvis showing bilateral flattening of the femoral epiphyses (right more severely affected than left). The right femoral head is also fragmented and irregular with increased sclerosis.
nihms-240150-f0002.jpg
PMC4533830_01_nihms-240150-f0002.jpg
F2
A skeletal survey showed anterior wedging of a midthoracic vertebra without evidence of vertebral flattening; the long bone epiphyses, particularly at the proximal femurs (Fig. 2), proximal humeri, and the knees and ankles were small, also consistent with multiple epiphyseal dysplasia.