Turturro Francesco, Calderaro Cosma, Montanaro Antonello, Labianca Luca, Argento Giuseppe, Ferretti Andrea
Orthopaedic Unit, S. Andrea Hospital, Sapienza University of Rome, Via di Grottarossa 1035, 00189 Rome, Italy.
Radiology Unit, S. Andrea Hospital, Sapienza University of Rome, Via di Grottarossa 1035, 00189 Rome, Italy.
Case Rep Radiol. 2014;2014:761582. doi: 10.1155/2014/761582. Epub 2014 Jul 20.
Congenital sternal defects are rare deformities frequently associated with other anomalies of the chest wall and other organ systems. Although pectus excavatum, pectus carinatum, and cleft sternum can present as isolated deformity, in most cases they are associated with heart and inner organs anomalies and described as symptoms of syndromes like Marfan syndrome, Noonan syndrome, Poland anomaly, and Cantrell pentalogy. In contrast, the etiology of an isolated defect is not well understood. We observed a short sternum (dysmorphic manubrium, hypoplastic body, and complete absence of the xiphoid process) in a completely asymptomatic 13-year-old woman. A comprehensive instrumental exams panel was performed to exclude associated anomalies of the heart and of the other organ systems. The patient was completely asymptomatic and she did not need any medical or surgical treatment. To our knowledge, this is the first case of isolated short sternum reported in literature.
先天性胸骨缺损是罕见的畸形,常与胸壁及其他器官系统的其他异常相关。虽然漏斗胸、鸡胸和胸骨裂可表现为孤立性畸形,但在大多数情况下,它们与心脏和内脏异常相关,并被描述为马凡综合征、努南综合征、波兰综合征和坎特雷尔五联症等综合征的症状。相比之下,孤立性缺损的病因尚不清楚。我们在一名13岁完全无症状的女性中观察到胸骨短小(畸形的胸骨柄、发育不全的胸骨体和剑突完全缺失)。进行了全面的器械检查以排除心脏和其他器官系统的相关异常。该患者完全无症状,无需任何药物或手术治疗。据我们所知,这是文献中报道的首例孤立性短胸骨病例。