Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida.
Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida.
J AAPOS. 2024 Oct;28(5):103990. doi: 10.1016/j.jaapos.2024.103990. Epub 2024 Sep 4.
We report the case of an 8-month-old infant born at 33 weeks' gestation referred to our institution for evaluation of left eye abduction deficit and microcephaly. Ophthalmic examination revealed a left eye abduction deficit with palpebral fissure narrowing on adduction along with palpebral fissure widening on abduction, consistent with Duane syndrome. Genetic testing revealed a pathogenic EP300 mutation confirming Rubinstein-Taybi syndrome type II. The cooccurrence of Duane syndrome and Rubinstein-Taybi syndrome is rare, with only 3 cases in the literature, 2 with genetic confirmation. Potential involvement of the cranial nerves in Rubinstein-Taybi syndrome may explain its cooccurrence with Duane syndrome, which is seemingly more common in EP300-mediated disease.
我们报告了一例 8 个月大的婴儿，该婴儿在 33 周时出生，因左眼外展不足和小头畸形到我们机构就诊。眼科检查显示左眼外展不足，内收时睑裂变窄，外展时睑裂变宽，符合 Duane 综合征。基因检测显示 EP300 致病性突变，确诊为 Rubinstein-Taybi 综合征 II 型。Duane 综合征和 Rubinstein-Taybi 综合征同时发生的情况非常罕见，文献中仅有 3 例，其中 2 例有基因证实。Rubinstein-Taybi 综合征可能涉及颅神经，这可以解释其与 Duane 综合征同时发生的原因，而 Duane 综合征在 EP300 介导的疾病中更为常见。
