Fig. 1.

Dysmorphic features and molecular result of the patient. A Dysmorphic facial features of the patient: short and upslanting palpebral fissures, prominent forehead, short philtrum, bulbous nasal tip, thin lips, small mouth, prognathism, midface hypoplasia, and high anterior hairline. B Photograph of the patient's hands showing brachydactyly and fifth-finger clinodactyly. C X-rays of the hands showing brachydactyly, especially in the middle phalanges. D, E Ocular findings of the left eye. F Photograph of the right eye. G-J X-rays showing mild broad ribs (G), mild thickening of the calvarium (H, I), and large vertebral pedicles between T11 and L2 (J). K Temporal bone CT showing enlarged vestibular aqueduct. L Sanger sequence result of the patient.