Radlović Vladimir, Smoljanić Zeljko, Radlović Nedeljko, Jakovljević Miroslav, Leković Zoran, Ducić Sinisa, Pavićević Polina
University Children's Hospital, Belgrade, Serbia.
Child and Youth Health Care Institute of Vojvodina, Novi Sad, Serbia.
Srp Arh Celok Lek. 2013 Sep-Oct;141(9-10):676-9. doi: 10.2298/sarh1310676r.
Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein. It is characterized by rhizomelic dwarfism, limb and vertebral deformity, joint laxity and early onset osteoarthrosis. We present the girl with the early expressed and severe PSACH born to clinically and radiographically unaffected parents.
A 6.5-year-old girl presented with short-limbed dwarfism (body height 79.5 cm, < P5;-32%) and normal craniofacial appearance and intelligence. The girl was normal until 3 months of age when she expressed growth retardation with apparently shorter extremities in relation to the torso. With age, her rhizomelic dwarfism became increasingly visible, and since completed 15 months of age, when she started to walk, the disease was complicated with genu varum, lumbar lordosis and abnormal gait. Beside visibly short forearms, short, broad and ulnar deviation of the hands, brachydactyly and joint hyperlaxity, the radiographic picture showed markedly flared metaphyses, small and irregular epiphyses and poorly formed acetabulum.
PSACH is an achondroplasia-like rhizomelic dwarfism recognized by the absence of abnormality at birth, normal craniofacial appearance, characteristic epiphyseal and metaphyseal radiographic finding and joint hyperlaxity.
假性软骨发育不全（PSACH）是一种常染色体显性遗传的骨软骨发育不良疾病，由编码软骨寡聚基质蛋白的基因突变引起。其特征为近端肢体短小性侏儒症、肢体和脊柱畸形、关节松弛以及早发性骨关节炎。我们报告了一名患有早期表现且严重的PSACH的女孩，其父母在临床和影像学上均未受影响。
一名6.5岁女孩，表现为短肢侏儒症（身高79.5厘米，<第5百分位数；-32%），颅面外观和智力正常。该女孩在3个月大之前发育正常，之后出现生长迟缓，相对于躯干而言四肢明显较短。随着年龄增长，她的近端肢体短小性侏儒症愈发明显，自15个月大开始走路后，病情并发膝内翻、腰椎前凸和异常步态。除了明显短小的前臂、短小宽阔且尺侧偏斜的手部、短指畸形和关节过度松弛外，影像学表现显示干骺端明显增宽、骨骺小且不规则以及髋臼发育不良。
PSACH是一种类似软骨发育不全的近端肢体短小性侏儒症，其特点为出生时无异常、颅面外观正常、具有特征性的骨骺和干骺端影像学表现以及关节过度松弛。
