case_images: PMC3535201_01
case_images: Radiographic findings. (A) Lateral view of the spine showing vertebral dysplasia, with ovoid or round vertebral bodies. (B) Posteroanterior views of the hand and wrist showing widening of the metacarpals and the proximal ends of the phalanges.
case_images: alm-33-75-g001.jpg
case_images: PMC3535201_01_alm-33-75-g001.jpg
case_images: F1
case_images: Lateral view of the spine showed vertebral dysplasia with ovoid-shaped vertebral bodies, without the evidence of vertebral breaking (Fig. 1A). Radiographs of both hands revealed widening of the metacarpals and the proximal ends of the phalanges (Fig. 1B).
case_images: PMC3535201_02
case_images: PMC3535201_03
case_images: PMC3535201_04
case_images: Direct sequencing of the HGSNAT gene. The patient was a compound heterozygote for c.234+1G>A and c.1150C>T (p.Arg384*).. Abbreviation: HGSNAT, heparan acetyl-CoA:alpha-glucosaminide N-acetyltransferase.
case_images: alm-33-75-g002.jpg
case_images: PMC3535201_04_alm-33-75-g002.jpg
case_images: F2
case_images: T at the 1150th base of the 12th exon to T and leads to the substitution of arginine with a premature termination codon (p.R384*). These nonsense and splice site mutations have both been reported previously (Fig. 2).