Öz
We report three cases which are of a 54-year-old man and his two sons who ages 24 and 21 years. The clinical examination and radiologic findings confirmed the diagnosis of nail-patella syndrome. We evaluated and compared the patella and patellar tendon, angles of patellar groove and knee functions of the cases. The bigger patella was associated with smaller patellar groove angle, more limited range of motion of the knee and more anterior knee pain complain
Anahtar Kelimeler
Kaynakça
- 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;40:153–62.
- Silahtaroglu A, Hol FA, Jensen PK, Erdel M, Duba HC, Geurds MP, Knoers NV, Mariman EC, Tumer Z, Utermann G, Wirth J, Bugge M, Tommerup N. “Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome.” Eur J Hum Genet. 1999;7:68–76.
- Scott JE, Taor WS “The small patella syndrome” J Bone Joint Surg 1979; 61B:172-179.
- Beguiristain JL, de Rada PD, Barriga A. “Nail-patella syndrome: long term evolution. J Pediatr Orthop B 2003;12:13-6.
- Williams HJ, Hoyer JR. Radiographic diagnosis of osteoonychodysostiosis in infancy. Radiology 1973;109:151-4.
- Darlington D, Hawkins CF “Nail-patella syndrome with iliac horns and hereditary nephropathy” J Bone Joint Surg 1967;49(1):164-174.
- Brixey AM, Burke RM “Arthro-onychodysplasia. Hereditary syndrome involving deformity of the head of radius, absence of patellas, posterior iliac spurs, dystrophy of finger nails” Am J Med 1950;8(6): 738-744.
- Niemeyer P, Edlich M, Hauschild O, Baumann T, Ghanem NA, Strohm PC, Südkamp NP “Clinical, radiological and arthroscopical aspects in nail patella syndrome. Literature review based on an affected family” Orthopade 2006;35(2):197-203.
- Tuncbilek N, Karakas HM,Okten OO “Imaging of nail-patella syndrome” Hong Kong Med J 2005;11:116-118.
Öz
Klinik ve radyolojik bulguları ile tırnak-patella sendromu tanısı alan 54 yaşında baba ve 24 ve 21 yaşlarında 2 oğlu patella ve patellar tendon yapıları, patellar oluk açıları ve diz fonksiyonları açısından değerlendirildi. Patella büyüklüğünün artması ile sulkus derinliğinin ve hareket açıklığının azaldığı ve diz önü ağrısı şikayetinin arttığı gözlenmiştir
Kaynakça
- 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;40:153–62.
- Silahtaroglu A, Hol FA, Jensen PK, Erdel M, Duba HC, Geurds MP, Knoers NV, Mariman EC, Tumer Z, Utermann G, Wirth J, Bugge M, Tommerup N. “Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome.” Eur J Hum Genet. 1999;7:68–76.
- Scott JE, Taor WS “The small patella syndrome” J Bone Joint Surg 1979; 61B:172-179.
- Beguiristain JL, de Rada PD, Barriga A. “Nail-patella syndrome: long term evolution. J Pediatr Orthop B 2003;12:13-6.
- Williams HJ, Hoyer JR. Radiographic diagnosis of osteoonychodysostiosis in infancy. Radiology 1973;109:151-4.
- Darlington D, Hawkins CF “Nail-patella syndrome with iliac horns and hereditary nephropathy” J Bone Joint Surg 1967;49(1):164-174.
- Brixey AM, Burke RM “Arthro-onychodysplasia. Hereditary syndrome involving deformity of the head of radius, absence of patellas, posterior iliac spurs, dystrophy of finger nails” Am J Med 1950;8(6): 738-744.
- Niemeyer P, Edlich M, Hauschild O, Baumann T, Ghanem NA, Strohm PC, Südkamp NP “Clinical, radiological and arthroscopical aspects in nail patella syndrome. Literature review based on an affected family” Orthopade 2006;35(2):197-203.
- Tuncbilek N, Karakas HM,Okten OO “Imaging of nail-patella syndrome” Hong Kong Med J 2005;11:116-118.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Case Report |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Eylül 2012 |
| Yayımlandığı Sayı | Yıl 2012Sayı: 3 |