Peeden J N, Rimoin D L, Lachman R S, Dyer M L, Gerard D, Gruber H E
Pediatric Associates, University of Tennessee, Department of Pediatrics, Knoxville 37909.
Am J Med Genet. 1992 Nov 15;44(5):651-6. doi: 10.1002/ajmg.1320440525.
In 1980 Sedaghatian described an Iranian infant who died shortly after birth. At autopsy, he was found to have subacute myocarditis, cortical necrosis of kidneys, and adrenal and pulmonary hemorrhage. His skeletal abnormalities included mild rhizomelic shortness of his limbs and platyspondylyl and "laciness" of the iliac wings. In 1987 Optiz et al. described another Iranian infant with a similar perinatal course and roentgenograms. This infant was born to first cousins, suggesting an autosomal recessive single gene defect. We report our findings of another infant with a lethal course.
1980年，塞达加蒂安描述了一名出生后不久即死亡的伊朗婴儿。尸检发现，他患有亚急性心肌炎、肾皮质坏死以及肾上腺和肺部出血。他的骨骼异常包括四肢轻度近端短小、椎体扁平以及髂骨翼“网状化”。1987年，奥普蒂兹等人描述了另一名具有相似围产期病程和X光片表现的伊朗婴儿。这名婴儿的父母是近亲，提示为常染色体隐性单基因缺陷。我们报告了另一名病程致命的婴儿的研究结果。
