Afreh Yaa Achiaa, Twum Kwasi Adjepong, Amankwa Adu Tutu, Ankomah Kwasi, Otoo Obed Kojo, Oku Caroline
Radiology Directorate, Komfo Anokye Teaching Hospital (KATH). P.O. Box 1934, Kumasi, Ghana.
Department of Radiology, School of Medicine and Dentistry, Kwame Nkrumah University of Science and Technology (KNUST), Private Mail Bag, University Post Office, Kumasi, Ghana.
Radiol Case Rep. 2024 Mar 15;19(6):2211-2213. doi: 10.1016/j.radcr.2024.02.056. eCollection 2024 Jun.
Hemimelia denotes the partial or complete absence of the distal half of a limb. Ulna hemimelia, a rare congenital anomaly, involves the complete or partial absence of the ulna in the upper limb, with an incidence of 1 in 150,000. This condition has been classified into 4 types, with the rare Type 4 variant involving humeroradial synostosis. We present a unique case of bilateral complete ulna hemimelia, humeroradial synostosis, and oligodactyly, in an 11-month-old female with bilateral upper limb shortening and restricted elbow movement since birth. Clinical examination revealed bilateral upper limb shortening, medial deviation of both wrist joints, fixed extension of both elbow joints, and bilateral absence of the cubital fossa. Radiographs confirmed bilateral micromelia, absence of ulna, humeroradial synostosis, and oligodactyly. This case, exhibiting bilateral Type 4 ulna hemimelia with Class 1 humeroradial synostosis, is a complex variant, rarely reported, and the first documented in Ghana. It also highlights the importance of radiological assessment in ensuring accurate diagnosis. Long-term follow-up and potential surgical interventions are crucial for optimizing upper limb function in such cases.
半肢畸形指肢体远端一半部分的部分或完全缺失。尺骨半肢畸形是一种罕见的先天性异常，涉及上肢尺骨的完全或部分缺失，发病率为15万分之一。这种情况已被分为4种类型，罕见的4型变异涉及肱桡关节融合。我们报告了一例独特的双侧完全性尺骨半肢畸形、肱桡关节融合和少指畸形病例，患者为一名11个月大的女性，自出生以来双侧上肢缩短且肘关节活动受限。临床检查发现双侧上肢缩短，双侧腕关节向内侧偏斜，双侧肘关节固定伸直，双侧肘窝缺失。X线片证实双侧短小肢畸形、尺骨缺失、肱桡关节融合和少指畸形。该病例表现为双侧4型尺骨半肢畸形伴1级肱桡关节融合，是一种复杂的变异，报道很少，且是加纳首例有记录的病例。它还强调了放射学评估在确保准确诊断中的重要性。长期随访和潜在的手术干预对于优化此类病例的上肢功能至关重要。
