Figure 950

Orofaciodigital syndrome (OFD). Contrast-enhanced CT, A, and the hands, B, of a 26-year-old woman with OFD type 1 (OFD1) [43]. Multiple cysts involve both kidneys. Note that they are smaller and more uniform than in ADPKD and that renal contours are preserved. Some cysts were also detected in liver and pancreas (arrow). Syndactyly was surgically corrected, and the digits of the hands are shortened (brachydactyly).

OFD1 is a rare X-linked, dominant disorder, diagnosed almost exclusively in females, as affected males die in utero.

Characteristic dysmorphic features include oral (hyperplastic frenulum, cleft tongue, cleft palate or lip, malposed teeth), facial (asymmetry, broad nasal root), and digit (syn-brachy-polydacty-ly) abnormalities. Mental retardation is present in about half the cases. Kidneys may be involved by multiple (usually small) cysts, mostly of glomerular origin; renal failure occurs between the second and the seventh decade of life. Recognition of the dysmorphic features is the key to the diagnosis [44, 45]. (Courtesy of F. Scolari.)

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