scholarly journals COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report

Author(s):  
Fang Liu ◽  
Zhizheng Xiong ◽  
Qi Liu ◽  
Jinxi Hu ◽  
Wenhua Li ◽  
...  
2021 ◽  
pp. 63-63
Author(s):  
Feng Cheng ◽  
Jian He

Introduction. Osteonecrosis of the femoral head (ONFH) is an intractable disease that causes progressive femoral head collapse, severe pain, and gait disturbance. We report a case of avascular necrosis of the femoral head following an occult femoral neck stress fracture, which shows that early diagnosis and treatment are very important. Case report. A 55-year-old woman presented to our department with a chief complaint of low back pain that radiated into the left anterolateral thigh for 2 months Her left anterolateral thigh became progressively more painful over a period of about 2 weeks. No abnormal findings indicative of ONFH or an occult fracture of the femoral neck were detected by X-ray or computed tomography (CT), but an occult insufficiency fracture of the left femoral neck was identified on magnetic resonance imaging (MRI). The diagnosis of femoral neck stress fracture was delayed, resulting in femoral head necrosis. The fracture was treated with total hip arthroplasty and the resected femoral head was subjected to histopathology. Based on the histopathological findings, the final diagnosis of this case was ONFH with an occult fracture of the left femoral neck. Clinical symptoms were relieved postoperatively. Conclusion. In patients presenting with a suspected stress fracture of the femoral neck, early MRI examination is recommended to avoid femoral head necrosis due to a delayed diagnosis.


2002 ◽  
Vol 12 (4) ◽  
pp. 397-399 ◽  
Author(s):  
S.R. Annapureddy ◽  
T.W.L Chapman ◽  
G.J. Charnley

We report a case of hereditary multiple exostoses (HME) presenting with avascular necrosis of the femoral head and mechanical impingement of an exostosis treated by total hip replacement.


2009 ◽  
Vol 58 (4) ◽  
pp. 703-707 ◽  
Author(s):  
Kazunobu Tsunoda ◽  
Yoshiyasu Aya ◽  
Shinichi Motomatsu ◽  
Takashi Shimauchi ◽  
Masao Eguchi

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Zeng Zhang ◽  
Kechao Zhu ◽  
Huiyong Dai ◽  
Qi Wang ◽  
Changqing Zhang ◽  
...  

AbstractAvascular necrosis of the femoral head (ANFH) is a debilitating bone disease, characterized by collapse of the femoral head and subsequent loss of hip joint function. Heterozygous mutations in COL2A1 have been identified to cause familial ANFH. Here we report on a large Chinese family with ANFH and a novel heterozygous mutation (c.3517 G > A, p.Gly1173Ser) in exon 50 of COL2A1 in the Gly-X–Y domain. Previously, only five different COL2A1 mutations have been described in patients with familial ANFH. Therefore, our findings provide significant clues to the phenotype–genotype relationships in familial ANFH and may be helpful in clinical diagnosis. Furthermore, these results should assist further studies of the mechanisms underlying collagen diseases.


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