Mid-trimester absent nasal bone and transient unilateral hydronephrosis associated with 16p13.3 microduplication

Sherer David M.; Hsieh Vicky; Kheyman Mila; Field Alessia; Dalloul Mudar

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Mid-trimester absent nasal bone and transient unilateral hydronephrosis associated with 16p13.3 microduplication

机译：中间周期中期缺乏鼻骨和瞬态单侧肾内肾复子与16p13.3微杂本相关

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Characteristic phenotypic features of 16p13.3 microduplication include impaired mental development, arthrogryposis-like musculoskeletal anomalies (club-feet, congenital hip dislocation, and camptodactyly of fingers and toes), facial dysmorphology, and at times congenital cardiac disease. Most of the described affected individuals have microduplications involving the CREBBP gene. Findings indicate this gene to be dosage-sensitive and likely involved in the phenotypes of 16p13.3 microduplication syndrome. We describe the incidental finding of 16p13.3 microduplication in a fetus with mid-trimester sonographic examination showing absent nasal bone and transient unilateral hydronephrosis.

机译：16p13的特征表型特征。3微复制包括智力发育受损、关节软骨样肌肉骨骼异常（棒足、先天性髋关节脱位、手指和脚趾弯曲畸形）、面部形态异常，有时还包括先天性心脏病。大多数被描述的受影响个体都有涉及CREBBP基因的微复制。研究结果表明，该基因对剂量敏感，可能与16p13的表型有关。3.微重复综合征。我们描述了16p13的偶然发现。3妊娠中期超声检查显示鼻骨缺失和一过性单侧肾积水的胎儿的微重复畸形。

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来源
《Journal of Clinical Ultrasound: JCU》 |2021年第6期|共3页
作者
Sherer David M.; Hsieh Vicky; Kheyman Mila; Field Alessia; Dalloul Mudar;
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作者单位

SUNY Downstate Hlth Sci Univ Dept Obstet &

Gynecol Div Maternal Fetal Med 450 Clarkson Ave Box;

SUNY Downstate Hlth Sci Univ Dept Obstet &

Gynecol Div Maternal Fetal Med 450 Clarkson Ave Box;

SUNY Downstate Hlth Sci Univ Dept Obstet &

Gynecol Div Maternal Fetal Med 450 Clarkson Ave Box;

SUNY Downstate Hlth Sci Univ Dept Obstet &

Gynecol Div Maternal Fetal Med 450 Clarkson Ave Box;

SUNY Downstate Hlth Sci Univ Dept Obstet &

Gynecol Div Maternal Fetal Med 450 Clarkson Ave Box;

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正文语种 eng
中图分类影像诊断学;
关键词
16p13; 3 microduplication; CREBBP gene; absent nasal bone; hydronephrosis; prenatal ultrasound;

机译：16P13;3微量杂皮组合;CREBBP基因;缺乏鼻骨;肾内肾病;产前超声;

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Mid-trimester absent nasal bone and transient unilateral hydronephrosis associated with 16p13.3 microduplication

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