Thalji Mariam, Shrouf Hakam, Dana Fadi
Halhul Governmental Hospital, Hebron, Palestine.
Faculty of Medicine, Al-Quds University, Jerusalem, Palestine.
Radiol Case Rep. 2024 Nov 22;20(2):933-936. doi: 10.1016/j.radcr.2024.10.122. eCollection 2025 Feb.
Proximal focal femoral deficiency (PFFD) is a rare congenital anomaly resulting in distinct degrees of femoral hypoplasia and limb shortening. .We present a case of 20-month-old female child, presented with a history of right lower limb shortening from birth and a progressive deformity over time. Physical examination revealed a shortened, externally rotated, and flexed right lower limb. The right and left lower limbs measured 27 cm and 40 cm, respectively. A diagnosis of PFFD was established. Due to limited resources and a shortage of specialized orthopedics doctors 2QA, the patient was referred to a medical mission organization that could help in such cases. Though PFFD is a rare limb anomaly, it significantly impacts a patient's life, if left untreated. Timely diagnosis and early intervention in these cases would have significantly improved prognosis and health outcomes.
近端股骨局灶性缺损(PFFD)是一种罕见的先天性异常,会导致不同程度的股骨发育不全和肢体缩短。我们报告一例20个月大的女童,自出生起就有右下肢缩短病史,且随着时间推移畸形逐渐加重。体格检查发现右下肢缩短、外旋且屈曲。右下肢和左下肢长度分别为27厘米和40厘米。确诊为PFFD。由于资源有限且缺乏专业的骨科医生2QA,该患者被转介至一个能处理此类情况的医疗救助组织。尽管PFFD是一种罕见的肢体异常,但如果不治疗,会对患者生活产生重大影响。对这些病例进行及时诊断和早期干预可显著改善预后和健康结局。