Department of Ophtalmology, Sapienza University, Rome, Italy.
Eur Rev Med Pharmacol Sci. 2010 Dec;14(12):1051-4.
The Pierre-Robin Syndrome (PRS) is a rare congenital abnormality, with an approximately 1/30,000 estimated rate, characterized by the presence of the combination of mandibular hypoplasia (micrognathia or small jaw), glossoptosis (retrusion of the tongue into the pharyngeal airway) and, often, a posterior cleft of the secondary palate. It may be an isolated occurrence or part of a more complex syndrome and it is associated with long-term respiratory, nutritional, and developmental difficulties. Stickler syndrome (SS) is a rare autosomal dominant connective tissue disorder estimated to affect approximately 1/7500 newborns. It is diagnosed clinically and, at present, there is no consensus on a minimal clinical diagnostic criterion. The most frequent diagnosis in patients with syndromic Pierre Robin sequence is Stickler syndrome, which may be complicated by congenital high myopia and substantial risk of retinal detachment. However, cases of Stickler syndrome with probable visual complications are rarely identified among this group of patients by members of the cleft team. The patient had an acute unilateral hydrops, with a monolateral keratoconus. The ocular abnormalities included: severe myopia, abnormalities of the vitreous, and high risk of retinal detachment (with subsequent blindness). We report two extremely rare cases of prenatal diagnosis of PRS and SS, prematurely identified by prenatal ultrasonography and successively managed by oculists ophthalmogists.
Pierre-Robin 综合征（PRS）是一种罕见的先天性异常，其发病率约为 1/30000，其特征是下颌骨发育不全（小颌畸形或小下颌）、舌下垂（舌后缩进入咽气道）以及通常伴有腭裂。它可能是一种孤立的发生或更复杂综合征的一部分，并与长期的呼吸、营养和发育困难有关。斯特克勒综合征（SS）是一种罕见的常染色体显性结缔组织疾病，估计每 7500 名新生儿中就有 1 名受到影响。它是通过临床诊断的，目前对于最小的临床诊断标准尚无共识。在综合征性 Pierre Robin 序列患者中最常见的诊断是斯特克勒综合征，它可能伴有先天性高度近视和视网膜脱离的高风险。然而，在 cleft 团队的成员中，很少能识别出这组患者中存在可能伴有视觉并发症的斯特克勒综合征病例。该患者出现单侧急性水肿，单侧圆锥角膜。眼部异常包括：严重近视、玻璃体异常以及视网膜脱离的高风险（随后失明）。我们报告了两例极其罕见的产前诊断 PRS 和 SS 的病例，这两例病例通过产前超声检查提前发现，并由眼科医生成功治疗。
