Alshahrani Mohammed, Maqbool Ali, Maqbool Mubashar
Department of Trauma and Orthopedics, Armed Forces Hospital, Southern Region, Khamis Mushait, Saudi Arabia.
Department of Orthopedic Surgery, Agha Khan University, Karachi, Pakistan.
J Orthop Case Rep. 2025 Sep;15(9):204-207. doi: 10.13107/jocr.2025.v15.i09.6070.
Congenital absence of the patella refers to a condition where an individual is born without the patella. It may be bilateral or unilateral. It is an extremely rare condition and when present, mostly occurs as part of syndromes, such as the Nail-patella syndrome, small patella syndrome, trisomy 8 mosaicism, and Meier-Gorlin syndrome.
We are presenting 35-years-old free medically, active soldier referred to the orthopedic clinic from family medicine after noticing abnormal incidental findings on X-rays. On inquiring him, he doesn't recall any problem during his childhood and performing his military duties. On clinical examination of the patient, he had characteristic features of patellar absence with prominent femoral condyles and a hollow sulcus.
Isolated congenital bilateral patellar absence I asymptomatic serving military soldier has not been described in the English literature before and is exceedingly rare.
先天性髌骨缺如指个体出生时就没有髌骨。可为双侧或单侧。这是一种极其罕见的病症，一旦出现，大多作为综合征的一部分发生，如指甲-髌骨综合征、小髌骨综合征、8号染色体三体镶嵌现象和迈耶-戈林综合征。
我们介绍一名35岁的现役军人，他在接受家庭医学检查时，X射线偶然发现异常，随后被转诊至骨科诊所。询问得知，他童年及履行军事职责期间均未出现任何问题。对该患者进行临床检查时，发现其具有髌骨缺如的特征性表现，股骨髁突出，有一凹陷沟。
英文文献中此前未描述过无症状现役军人孤立性先天性双侧髌骨缺如的情况，此情况极为罕见。
