Bradburn J M, Hall B D
Department of Pediatrics, University of Kentucky, Lexington, USA.
Am J Med Genet. 1995 Nov 6;59(2):234-7. doi: 10.1002/ajmg.1320590222.
We report on a patient of Guatemalan descent whose physical and radiological findings are consistent with a diagnosis of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). This is a rare, autosomal recessive skeletal dysplasia with short limbs, severe scoliosis, high dorsal kyphoscoliosis, and joint hypermobility. Most described patients with SEMDJL are from the Afrikaans-speaking communities of South Africa. Patients with SEMDJL have an oval face, prominent eyes, and blue sclerae. Our patient's height and weight were below the fifth centile. She had prominent eyes with blue sclerae, a narrow, high-arched palate, pectus carinatum, severe scoliosis, and hyperextensibility and instability of most joints, with limited extension and supination of her elbows. A review of her roentgenograms showed severe scoliosis, poorly developed ischial, iliac, and pubic bones, a "bat-like" appearance of the iliac bones, "dysplastic" acetabulum, minimal metaphyseal and epiphyseal abnormalities at the knees, deformation of the proximal femoral metaphyses, and generalized brachydactyly of the hands and feet. This disorder may be more common than previously thought, and the diagnosis should be considered in any child with a dwarfing condition and joint laxity.
我们报告了一名危地马拉裔患者，其体格检查和影像学检查结果符合伴关节松弛的脊椎骨骺发育异常（SEMDJL）的诊断。这是一种罕见的常染色体隐性遗传性骨骼发育异常，其特征为四肢短小、严重脊柱侧弯、高位背侧脊柱后凸以及关节活动过度。大多数已报道的SEMDJL患者来自南非说南非荷兰语的社区。患有SEMDJL的患者有椭圆形脸、突出的眼睛和蓝色巩膜。我们的患者身高和体重低于第五百分位。她有突出的眼睛和蓝色巩膜、狭窄且高拱的腭、鸡胸、严重脊柱侧弯以及大多数关节的过度伸展和不稳定，肘部伸展和旋后受限。对其X线片的回顾显示严重脊柱侧弯、坐骨、髂骨和耻骨发育不良、髂骨呈“蝙蝠样”外观、“发育异常”的髋臼、膝关节处干骺端和骨骺的轻微异常、股骨近端干骺端变形以及手足普遍短指（趾）。这种疾病可能比以前认为的更常见，对于任何患有侏儒症和关节松弛的儿童都应考虑进行诊断。
