Cohen M M, Kreiborg S
Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.
Am J Med Genet. 1993 Mar 15;45(6):758-60. doi: 10.1002/ajmg.1320450618.
We report on visceral anomalies found in 136 patients with Apert syndrome. Autopsies were only performed on 12 of these cases. Thus, the percentage of anomalies found in our patients should be considered a minimum estimate because of the possibility of clinically silent visceral anomalies, minor internal anomalies, and anatomic variations. Cardiovascular and genitourinary anomalies were found most commonly, occurring in 10% and 9.6%, respectively. As expected, complex and multiple cardiac anomalies were frequently associated with early death. Among genitourinary anomalies, hydronephrosis (3%) and cryptorchidism (4.5%, n = 66 males) occurred most commonly. In contrast, anomalies of the respiratory system (1.5%) and gastrointestinal anomalies (1.5%) occurred with lower frequency. The finding of a solid cartilaginous trachea is particularly important because no case was diagnosed during life but rather, only at autopsy. Because cardiovascular and genitourinary anomalies occur with significant frequency, they should be considered in the workup of all Apert newborn infants. We also recommend MRI study of the trachea in any infant with signs and symptoms of lower respiratory compromise.
我们报告了136例Apert综合征患者中发现的内脏异常情况。其中仅对12例进行了尸检。因此，由于存在临床无症状的内脏异常、轻微内部异常和解剖变异的可能性，我们患者中发现的异常百分比应被视为最低估计值。心血管和泌尿生殖系统异常最为常见，分别占10%和9.6%。正如预期的那样，复杂和多发性心脏异常常与早期死亡相关。在泌尿生殖系统异常中，肾盂积水（3%）和隐睾症（4.5%，n = 66名男性）最为常见。相比之下，呼吸系统异常（1.5%）和胃肠道异常（1.5%）的发生率较低。实性软骨性气管的发现尤为重要，因为生前均未诊断出病例，而是仅在尸检时发现。由于心血管和泌尿生殖系统异常的发生率较高，在所有Apert综合征新生儿的检查中都应予以考虑。我们还建议对任何有下呼吸道功能不全体征和症状的婴儿进行气管的MRI检查。
