Geleophysic dysplasia caused by a mutation in FBN1: A case report

Figure 1 Clinical characters of the patient. A, C and D: Patient presented extreme short stature, short limbs, short hands and feet; B: Patient had unique facial features including round face, small nose with anteverted nostrils, broad and depressed nasal bridge and thin upper lip.

Figure 2 Representative radiographic and flexible bronchofiberscope images. A and B: Laryngopharynx computed tomography presented trachea stenosis; C: Skeletal X-ray was taken at age 6 and revealed a delayed bone age and epiphyseal dysplasia; D: Electronic bronchoscope demonstrated severe glottic stenosis.