Hanson J W, Smith D W
J Pediatr. 1975 Jul;87(1):30-33. doi: 10.1016/s0022-3476(75)80063-1.
The palatal defect in patients with the Robin anomalad was found to be U shaped. This finding is compatible with the hypothesis that the underlying dysmorphic event is usually early mandibular hypoplasia with secondary extrinsic obstruction of palatal closure by a posteriorly displaced tongue. The more common V-shaped defects of palate closure arise by a different mechanism. Unfortunately, available recurrence risk data for cleft palate do not allow for this distinction. Furthermore, physicians should be alert for instances in which the Robin anomalad is but one feature of a broader pattern of malformation. In the current study, 25% of the 28 patients ascertained as having the Robin anomalad had a recognizable syndrome for which specific, but varying, genetic counsel was indicated.
患有罗宾序列征的患者的腭部缺损被发现呈U形。这一发现与以下假设相符:潜在的畸形事件通常是早期下颌骨发育不全,继而因舌后移导致腭部闭合受到外部继发性阻碍。更为常见的V形腭部闭合缺损是由不同机制引起的。遗憾的是,现有的腭裂复发风险数据无法区分这两种情况。此外,医生应警惕罗宾序列征只是更广泛畸形模式的一个特征的情况。在本研究中,确诊为患有罗宾序列征的28名患者中有25%患有可识别的综合征,针对这些综合征需要提供特定但各不相同的遗传咨询。