Dieux-Coëslier Anne, Moerman Alexandre, Holder Muriel, Boute Odile, Maroteaux Pierre, Manouvrier Sylvie, Le Merrer Martine
Service of Genetics, Hôpital Jeanne de Flandre, CHRU 59037 de Lille, France.
Am J Med Genet A. 2004 Jan 1;124A(1):60-6. doi: 10.1002/ajmg.a.20411.
Three unrelated patients affected by a characteristic metaphyseal chondrodysplasia with cup-shaped metaphyses of the knees are described. Lower femoral and upper tibial cone-shaped epiphyses were embedded in the metaphyses. Main clinical features are short stature, shortening of the lower limbs, limitation of knee extension, and normal hands length. Radiographs of skull, spine, and hands showed no abnormality. This particular appearance of the knees has been seldom described in acquired disease such as repeated injuries, meningococcemia, scurvy, and hypervitaminosis A. Metaphyseal dysplasias with these distinctive radiological findings of the knees are uncommon. Differential diagnosis includes trichoscyphodysplasia and acroscyphodysplasia among others. Two other cases reported by Kozlowski showed the most similarities to our three cases and defined a new form of metaphyseal dysplasia with specific lower limbs involvement and cup-shaped metaphyses.
本文描述了3例患有特征性干骺端软骨发育不良的无关患者，其膝关节干骺端呈杯状。股骨下端和胫骨上端的锥形骨骺嵌入干骺端。主要临床特征为身材矮小、下肢缩短、膝关节伸展受限以及手部长度正常。颅骨、脊柱和手部的X线片未见异常。这种特殊的膝关节表现很少在诸如反复损伤、脑膜炎球菌血症、坏血病和维生素A过多症等后天性疾病中被描述。具有这些独特膝关节放射学表现的干骺端发育不良并不常见。鉴别诊断包括毛发弯曲发育不良和肢端弯曲发育不良等。Kozlowski报告的另外两例与我们的三例最为相似，并定义了一种新的干骺端发育不良形式，其具有特定的下肢受累和杯状干骺端。
