Missing creases of distal finger joints as a diagnostic clue of nail-patella syndrome

Dermatology

Volumn 213, Issue 2, 2006, Pages 153-155

  Itin, Peter H ^a,b   Eich, Georg ^c   Fistarol, Susanna K ^b  

^a UNIVERSITY HOSPITAL BASEL   (Switzerland)

^b CANTONAL HOSPITAL AARAU   (Switzerland)

^c NONE   (Switzerland)

Author keywords

Dysplastic nails; Missing skin creases of distal finger joints; Radiographic findings; Transcription factor gene mutation

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE RADIOGRAPHY; CASE REPORT; DIAGNOSTIC TEST; FEMALE; FINGER JOINT; HUMAN; INTERPHALANGEAL JOINT; NAIL APLASIA; NAIL DISEASE; NAIL PATELLA SYNDROME; PREDICTION; PRIORITY JOURNAL;

ADULT; DIAGNOSIS, DIFFERENTIAL; FEMALE; FINGER JOINT; HUMANS; NAIL-PATELLA SYNDROME; SKIN ABNORMALITIES;

EID: 33747054180     PISSN: 10188665     EISSN: None     Source Type: Journal    
DOI: 10.1159/000093857     Document Type: Article

References (11)

1. Sweeney E, Fryer A, Mountford R, Green A, McIntosh I: Nail patella syndrome: a review of the phenotype aided by developmental biology. J Med Genet 2003;40:153-162.
2. Schulz-Butulis BA, Welch MD, Norton SA: Nail-patella syndrome. J Am Acad Dermatol 2003;49:1086-1087.
3. Morello R, Zhou G, Dreyer SD, Harvey SJ, Ninomiya Y, Thorner PS, Miner JH, Cole W, Winterpacht A, Zabel B, Oberg KC, Lee B: Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome. Nat Genet 2001;27:205-208.
4. McIntosh I, Dunston JA, Liu L, Hoover-Pong JE, Sweeney E: Nail patella syndrome revisited: 50 years after linkage. Ann Hum Genet 2005;69:349-363.
5. Campeau E, Watkins D, Rouleau GA, Babul R, Buchanan JA, Meschino W, Der Kaloustian VM: Linkage analysis of the nail-patella syndrome. Am J Hum Genet 1995;56:243-247.
6. Chen H, Lun Y, Ovchinnikov D, Kokubo H, Oberg KC, Pepicelli CV, Gan L, Lee B, Johnson RL: Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat Genet 1998;19:51-55.
7. Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, Lee B: Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet 1998;19:47-50.
8. Bongers EM, Huysmans FT, Levtchenko E, de Rooy JW, Blickman JG, Admiraal RJ, Huygen PL, Cruysberg JR, Toolens PA, Prins JB, Krabbe PF, Borm GF, Schools J, van Bokhoven H, van Remortele AM, Hoefsloot LH, van Kampen A, Knoers NV: Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet 2005;8:935-946.
9. Feingold M, Itzchak Y, Goodman RD: Ultrasound prenatal diagnosis of the nail-patella syndrome. Prenat Diagn 1998;18:854-856.
10. McIntosh I, Clough MV, Gak E, Frydman M: Prenatal diagnosis of nail-patella syndrome. Prenat Diagn 1999;19:287-288.
11. Dunston JA, Lin S, Park JW, Malbroux M, McIntosh I: Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome. Ann Hum Genet 2005;69:1-8.