Kumar Ajay, Rai Gopal K, Akhtar Javed, Phillip Rajeev, Gutch Manish, Arya T V S
Department of Medicine, LLRM Medical College, Meerut, Uttar Pradesh, India.
Indian J Endocrinol Metab. 2013 Oct;17(Suppl 1):S231-3. doi: 10.4103/2230-8210.119581.
Madelung deformity is a rare inherited disorder associated with endocrine disorders like Turner's syndrome, pseudohypoparathyroidism, but can be seen with short stature homeobox deficiency conditions such as Leri-Weill dyschondrosteosis (LWD) and Langers mesomelic dysplasia. It has also been reported following trauma to the distal radius epiphysis neoplasia mucopolysaccharidosis (MPS) and achondroplasia. Madelung deformity is an abnormality of distal radial epiphysis where in progressive ulnar and volar tilt of the articular surface occurring in association with distal subluxation of ulna. A 13-year-old girl was referred to us for evaluation of bilateral deformity of wrist and short stature. There was ulnar deviation and dorsal tilt of bilateral hands without history of pain to the joint trauma and family history of similar illness. On X-ray, wrist showed malformed distal radial epiphysis with dorsal and ulnar shift and with increased length of phalanges suggestive of Madelung deformity. X-ray spine was normal. Ultrasound abdomen showed normal uterus and ovary and her follicle stimulating hormone. Luteinizing hormone was normal and so was urine MPS screening. Based on the above points the diagnosis of LWD was made.
马德隆畸形是一种罕见的遗传性疾病，与特纳综合征、假性甲状旁腺功能减退等内分泌疾病有关，但也可见于矮小同源盒缺乏症，如勒里-韦尔软骨发育不全（LWD）和兰格氏中肢发育不全。在桡骨远端骨骺肿瘤、粘多糖贮积症（MPS）和软骨发育不全创伤后也有相关报道。马德隆畸形是桡骨远端骨骺的一种异常，表现为关节面逐渐向尺侧和掌侧倾斜，并伴有尺骨远端半脱位。一名13岁女孩因双侧手腕畸形和身材矮小前来我们处就诊。双侧手部有尺侧偏斜和背侧倾斜，无关节创伤疼痛史及类似疾病家族史。X线检查显示，手腕部桡骨远端骨骺畸形，向背侧和尺侧移位，指骨长度增加，提示马德隆畸形。脊柱X线检查正常。腹部超声显示子宫和卵巢正常，卵泡刺激素正常。促黄体生成素正常，尿MPS筛查也正常。基于以上几点，诊断为LWD。
