Borochowitz Z, Langer L O, Gruber H E, Lachman R, Katznelson M B, Rimoin D L
Simon Winter Institution of Human Genetics, Bnai-Zion Medical Center, Technion-Faculty of Medicine, Haifa, Israel.
Am J Med Genet. 1993 Feb 1;45(3):320-6. doi: 10.1002/ajmg.1320450308.
We report on a "new" severe short-limb bone dysplasia which can be labeled descriptively a spondylo-meta-epiphyseal dysplasia. The 3 patients were born to 2 unrelated Sepharadic Jewish families and a Puerto Rican family. Clinical abnormalities include small stature with short limbs including short hands, a short nose with wide nasal bridge and wide nostrils, a long philtrum, ocular hypertelorism, retro/micrognathia, and a narrow chest. Radiological abnormalities include platyspondyly, short tubular bones with very abnormal metaphyses and epiphyses beyond early infancy, short ribs, and a typical evolution of bony changes over time. Chondroosseous morphology and ultrastructure document sparse matrix and degenerating chondrocytes surrounded by dense amorphous material in the 1 patient studied. Consanguinity is present in 1 family. In addition to the described patient, 2 other short-limb sibs, who did not survive infancy, were born into this family. Even in the absence of any photographic or radiologic documentation of these other 2 infants, autosomal recessive mode of inheritance seems probable.
我们报告了一种“新的”严重短肢骨发育不良，可描述性地标记为脊椎-干骺端发育不良。这3例患者分别来自2个无血缘关系的西班牙裔犹太家庭和1个波多黎各家庭。临床异常包括身材矮小伴四肢短小，包括手部短小、鼻梁宽且鼻孔大的短鼻、人中长、眼距增宽、下颌后缩/小颌畸形以及胸廓狭窄。放射学异常包括椎体扁平、管状骨短小，婴儿早期后干骺端和骨骺异常明显、肋骨短小以及骨骼改变随时间的典型演变。在所研究的1例患者中，软骨骨形态和超微结构显示基质稀少，退变的软骨细胞被致密无定形物质包围。1个家庭存在近亲结婚情况。除了所描述的患者外，该家庭还出生了另外2例四肢短小的同胞，他们在婴儿期未存活。即使没有这另外2例婴儿的任何照片或放射学记录，常染色体隐性遗传模式似乎也很可能。
