Prenatal 3D Ultrasound Diagnostics in Cleidocranial Dysplasia
Prenatal 3D Ultrasound Diagnostics in Cleidocranial Dysplasia
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DOI：
10.1159/000195634
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发表时间：
2009-01-01
影响因子：
2.2
通讯作者：
Sundberg, K.
中科院分区：
文献类型：
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作者：
Hermann, N. V.;Hove, H. D.;Sundberg, K.
一名 34 岁白人女性患有锁骨颅骨发育不良 (CCD) 且已知有 CCD 家族史，她在第二次怀孕的前三个月被转诊接受超声检查。 RUNX2 基因的分子遗传学分析没有提供任何信息。孕龄 12 周时在当地医院进行的常规 2D 超声检查未发现 CCD 迹象。第15+4周的3D超声检查显示胎儿具有典型的CCD特征，包括囟门大、缺乏鼻骨、锁骨没有典型的S形，以及颅骨骨化严重延迟，特别是在中线。怀孕期间的一系列 3D 超声检查证实了诊断，并且随着时间的推移，表现变得更加明显。该诊断在出生时得到临床证实。该病例表明，典型的颅面 CCD 特征，包括颅骨中线广泛的未矿化区域和缺失的鼻骨，早在第 15 周就可以使用 3D 超声轻松识别。版权所有 (C) 2009 S. Karger AG，巴塞尔
A 34-year-old Caucasian woman with cleidocranial dysplasia (CCD) and a known family history of CCD was referred for an ultrasound examination in the first trimester of her second pregnancy. Molecular genetic analysis of the RUNX2 gene was non-informative. A routine 2D ultrasound examination carried out at a local hospital at gestational age 12 weeks showed no signs of CCD. A 3D ultrasound examination in week 15+4 showed a fetus with typical CCD features including large fontanelles, lack of nasal bones, clavicles without the typical S-form, as well as severe delay in calvarial ossification, especially in the midline. Serial 3D ultrasound examinations during pregnancy confirmed the diagnosis, and over time the manifestations became even more distinct. The diagnosis was clinically confirmed at birth. This case suggests that the typical craniofacial CCD traits, including wide un-mineralized areas in the calvarial midline and missing nasal bones, are easily recognizable using 3D ultrasound as early as in week 15. Copyright (C) 2009 S. Karger AG, Basel