Goncalves Luis F, Berger Julie A, Macknis Jacqueline K, Bauer Samuel T, Bloom David A
Department of Obstetrics and Gynecology, Division of Fetal Imaging, Oakland University William Beaumont School of Medicine, 3601 W. 13 Mile Road, Royal Oak, MI, 48073, USA.
Department of Radiology, Division of Pediatric Radiology, Oakland University William Beaumont School of Medicine, Royal Oak, MI, USA.
Pediatr Radiol. 2017 Jan;47(1):108-112. doi: 10.1007/s00247-016-3705-9. Epub 2016 Sep 27.
Grebe dysplasia is a rare skeletal dysplasia characterized by severe acromesomelic shortening of the long bones in a proximal to distal gradient of severity, with bones of the hands and feet more severely affected than those of the forearms and legs, which in turn are more severely affected than the humeri and femora. In addition, the bones of the lower extremities tend to be more severely affected than the bones of the upper extremities. Despite the severe skeletal deformities, the condition is not lethal and surviving individuals can have normal intelligence. Herein we report a case of Grebe dysplasia diagnosed at 20 weeks of gestation. Rendered 3-D ultrasound images of the fetal limbs, particularly of the characteristic tiny and globular-looking fingers and toes, were instrumental in accurately characterizing the phenotype prenatally.
格布发育异常是一种罕见的骨骼发育异常，其特征是长骨严重的肢端中间缩短，严重程度从近端到远端呈梯度变化，手和脚的骨骼比前臂和腿部的骨骼受影响更严重，而前臂和腿部的骨骼又比肱骨和股骨受影响更严重。此外，下肢骨骼往往比上肢骨骼受影响更严重。尽管存在严重的骨骼畸形，但这种情况并不致命，存活个体的智力可以正常。在此，我们报告一例在妊娠20周时诊断出的格布发育异常病例。胎儿四肢的三维超声图像，特别是特征性的小而呈球状的手指和脚趾的图像，有助于在产前准确地确定其表型。
