Ahmad M, Faiyaz Ul Haque M, Ahmad W, Abbas H, Haque S, Krakow D, Rimoin D L, Lachman R S, Cohn D H
Department of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Am J Med Genet. 1998 Aug 6;78(5):468-73.
We describe a large inbred kindred from a remote area of Pakistan, comprising eight generations, with a distinct form of spondyloepimetaphyseal dysplasia (SEMD). We evaluated 16 affected individuals: 11 males and 5 females. Analysis of the pedigree strongly suggests autosomal recessive inheritance, and consanguineous loops could account for all the affected individuals being homozygous for the abnormal allele. The clinical findings included short stature evident at birth, short bowed lower limbs, mild brachydactyly, kyphoscoliosis, an abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. Radiographs demonstrated delayed epiphyseal ossification at the hips and knees, platyspondyly with irregular end plates and narrowed joint spaces, diffuse, early osteoarthritic changes, primarily in the spine and hands, and mild brachydactyly. Mild metaphyseal abnormalities were seen predominantly at hips and knees. This distinctive phenotype is distinct from other autosomal recessive forms of SEMD because of the mild degree of metaphyseal involvement, the type of brachydactyly, and the absence of loose joints or other clinical findings.
我们描述了一个来自巴基斯坦偏远地区的大型近亲家族，该家族有八代人，患有一种独特形式的脊椎骨骺发育不良（SEMD）。我们评估了16名受影响个体：11名男性和5名女性。系谱分析强烈提示常染色体隐性遗传，近亲通婚圈可以解释所有受影响个体均为异常等位基因的纯合子。临床发现包括出生时即明显的身材矮小、下肢短而弯曲、轻度短指畸形、脊柱侧凸、异常步态、膝关节肿大、早熟性骨关节炎以及智力正常。X线片显示髋部和膝部骨骺骨化延迟、椎体扁平且终板不规则、关节间隙变窄、弥漫性早期骨关节炎改变（主要在脊柱和手部）以及轻度短指畸形。轻度干骺端异常主要见于髋部和膝部。这种独特的表型与其他常染色体隐性形式的SEMD不同，原因在于干骺端受累程度较轻、短指畸形类型以及无关节松弛或其他临床发现。
