Mégarbané A, Ghanem I, Le Merrer M
Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, 42 rue de Grenelle, Beyrouth, Liban, France.
Am J Med Genet A. 2003 Oct 15;122A(3):252-6. doi: 10.1002/ajmg.a.20262.
A 6-year-old boy with congenital hip dislocation, developmental delay, short stature, macrocephaly, low set ears, short neck, and hyperlaxity of the wrists and fingers is described. Radiographs disclosed mainly the presence of thoracic scoliosis, narrow interpedicular distances, metaphyseal vertical striations, very small irregular epiphyses, right hip dislocation, luxation of both elbows, and severe delay of ossification of the epiphyses and the carpal bones. These features are very close to the newly described entity: spondyloepimetaphyseal dysplasia and multiple dislocations. This patient brings to light the differential diagnosis and confirms the specificity of the radiological findings of this new entity.
本文描述了一名6岁男孩，患有先天性髋关节脱位、发育迟缓、身材矮小、巨头畸形、低位耳、短颈以及手腕和手指关节过度松弛。X线片主要显示存在胸椎侧弯、椎弓根间距变窄、干骺端垂直条纹、非常小的不规则骨骺、右髋关节脱位、双侧肘关节脱位以及骨骺和腕骨的严重骨化延迟。这些特征与新描述的疾病：脊椎骨骺干骺发育不良和多发性脱位非常接近。该患者揭示了鉴别诊断，并证实了这一新疾病放射学表现的特异性。
