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ROENTGEN FINDINGS OF PSEUDO-HURLER POLYDYSTROPHY IN THE ADULT, WITH A NOTE ON CEPHALOMETRIC CHANGES

I. AVIAD M.D.1, H. STEIN M.D.2, and Y. ZILBERMAN 3

1 Department of Radiology, Hadassah University Hospital, Jerusalem.
2 Department of Orthopedics, Hadassah University Hospital, Jerusalem.
3 Department of Orthodontics, Hebrew University-School of Dentistry, Jerusalem.

The roentgen findings of 2 adult siblings affected by pseudo-Hurler polydystrophy (mucolipidosis III) are described.

These include: mandibular prognathism; absence of dens; short and wide clavicles; short and plump tubular bones with cyst-like defects in their distal ends; claw hands with nonunion of the styloid of the radius; and oar-shaped ribs. The findings in the spine include irregularities of the vertebral end plates and slight scoliosis.

Although a pattern of the roentgen findings in this syndrome emerges from the literature and the here published data, laboratory and roentgen findings are necessary for a specific diagnosis.


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