PDF(Pubmed)
Abstract：
This study presents the routine prosection findings of a 73-year-old male cadaver, with the cause of death reported to be hypertension and respiratory failure. Deep thorax and abdomen dissection exposed profound external and internal anatomical abnormalities. Externally, the body exhibited the following: pectus excavatum; short-limbed dwarfism; and abnormalities of the head, face, and external genitalia. Most of these findings suggest that the donor had Robinow syndrome, a rare genetic disorder involving developmental delay and skeletal abnormalities akin to those found in this cadaver. The internal gross anatomical findings included the following: megacolon; hiatal hernia; bilateral inguinal hernias; laterally displaced right kidney with a fibrous adhesion extending from the inferior pole of the kidney to the inguinal canal; atypical branching of the abdominal aorta; superiorly displaced diaphragm; pulmonary hypoplasia; heart right of midline; and curved esophagus. Although determining the exact etiology of megacolon is difficult in a cadaveric specimen, it is important to investigate the physiological changes associated with it. Therefore, the aim of this study was to investigate the space-occupying pathology of megacolon and to discuss a potential connection between megacolon and Robinow syndrome.
摘要：
这项研究提出了一个73岁的男性尸体的常规解剖结果，据报道，死亡原因是高血压和呼吸衰竭。深部胸部和腹部夹层暴露了深刻的外部和内部解剖异常。外部,身体表现出以下特征:漏斗胸；短肢侏儒症；和头部异常，脸,和外生殖器。这些发现大多数表明捐赠者患有Robinow综合征，一种罕见的遗传疾病，涉及发育迟缓和骨骼异常，类似于在这具尸体中发现的那些。内部大体解剖发现包括：巨结肠；食管裂孔疝；双侧腹股沟疝；右肾侧向移位，纤维粘连从肾脏下极延伸到腹股沟管；腹主动脉的非典型分支；上移位的隔膜；肺发育不全；中线右心；和弯曲的食道。尽管在尸体标本中很难确定巨结肠的确切病因，调查与之相关的生理变化很重要。因此,本研究的目的是调查巨结肠的占位性病理学,并讨论巨结肠与Robinow综合征之间的潜在联系.
