Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs.
We describe two brothers with variable expression of a unique syndrome. One sib has postaxial polydactyly of the right hand and feet, two digits on the left hand (a thumb and first digit), bilateral ulnar ray dysgenesis, ectrodactyly of one hand, and ultrasonic evidence of cystic kidneys. His brother has postaxial polydactyly and small kidneys. The parents and a third sib are normal. They do not have the Pallister ulnar-mammary syndrome but may have an unusual form of the Weyers oligodactyly syndrome. This appears to be the first report of an acro-renal syndrome with ulnar dysgenesis, oligodactyly, polydactyly, and dysplastic kidneys.
Kaplan
B S
BS
Division of Nephrology Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA. kaplanb@email.chop.edu
Bellah
R D
RD
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005532:Foot Deformities, Congenital / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007223:Infant; D007674:Kidney Diseases / Q000151:congenital / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D017689:Polydactyly / Q000235:genetics*; D011859:Radiography; D013577:Syndrome; D014457:Ulna / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014463:Ultrasonography