Gruber H E, Lachman R S, Rimoin D L
Medical Genetics-Birth Defects Center, Cedars-Sinai Medical Center, Los Angeles, CA 90048.
Scanning Microsc. 1990 Sep;4(3):775-80.
The short rib polydactyly syndromes (SRP) are lethal neonatal skeletal dysplasias with a narrow chest, short limbs, and other abnormalities. Type II (Majewski) short rib polydactyly can be distinguished from the Type I/III (Saldino-Noonan) type on the basis of radiographic and histologic changes. Our previous transmission electron microscopic studies suggested unusual patterns of cartilage calcification in these syndromes. We evaluate calcification in the present study using scanning electron microscopy and quantitative morphometry of calcification regions digested to expose calcospherite nodules (calcification nodules), distinctive morphologic structures which form during cartilage calcification. Mean calcospherite area of the Majewski Type II SRP (3.5 +/- 0.24 x 10(-6) mm2 (3) (mean +/- sem (n) did not differ from normal control means (3.1 +/- 0.5 x 10(-6) mm2, (3)). The mean area for Type I/III, however, was significantly larger than both the control and Type II means (8.9 +/- 1.16 x 10(-6) mm2 (7), p = .001). This difference in calcospherite size adds a further differentiating feature between these two dysplasias.
短肋多指综合征（SRP）是一种致死性的新生儿骨骼发育不良疾病，其特征为胸廓狭窄、四肢短小以及其他异常表现。II型（马耶夫斯基型）短肋多指综合征可根据影像学和组织学变化与I/III型（萨尔迪诺－努南型）相区分。我们之前的透射电子显微镜研究表明，这些综合征存在异常的软骨钙化模式。在本研究中，我们使用扫描电子显微镜以及对经消化以暴露钙化球结节（钙化结节）的钙化区域进行定量形态测定来评估钙化情况，钙化球结节是软骨钙化过程中形成的独特形态结构。马耶夫斯基II型SRP的平均钙化球面积（3.5±0.24×10⁻⁶平方毫米（3）（均值±标准误（n））与正常对照均值（3.1±0.5×10⁻⁶平方毫米，（3））无差异。然而，I/III型的平均面积显著大于对照组和II型的均值（8.9±1.16×10⁻⁶平方毫米（7），p = 0.001）。钙化球大小的这种差异为这两种发育不良增加了一个进一步的鉴别特征。
