Gerscovich Eugenio O, Sekhon Simran, Loehfelm Thomas W, Greenspan Adam
Department of Radiology, UC Davis Health, Sacramento, California, USA.
J Ultrason. 2017 Dec;17(71):294-298. doi: 10.15557/JoU.2017.0043. Epub 2017 Dec 29.
Proximal femoral focal deficiency is an extremely rare congenital anomaly with only a few case reports in the literature. This case illustrates one diagnosed by prenatal ultrasound. The diagnosis may be isolated or associated with other abnormalities and syndromes. This report describes the early obstetrical ultrasound diagnosis, its evolution and associated findings throughout pregnancy. To the best of our knowledge, it is the first report associating this diagnosis with sickle cell trait. Another finding in our patient was a concomitant intrauterine growth restriction that we attribute to placental infarctions and a retro placental hemorrhage, also on the basis of sickle cell trait. At birth, placental weight was under the 10 percentile for gestational age. Obstetrical ultrasound in the prenatal diagnosis of proximal femoral focal deficiency is important, because early recognition of this malformation could provide useful information to parents and physicians regarding newborn management and therapeutic planning.
股骨近端局灶性缺损是一种极其罕见的先天性异常，文献中仅有少数病例报告。本病例展示了一例经产前超声诊断的病例。该诊断可能是孤立的，也可能与其他异常和综合征相关。本报告描述了早期产科超声诊断、其在整个孕期的演变及相关发现。据我们所知，这是第一例将该诊断与镰状细胞性状相关联的报告。我们患者的另一项发现是同时存在的胎儿生长受限，我们将其归因于胎盘梗死和胎盘后出血，同样也是基于镰状细胞性状。出生时，胎盘重量低于孕周的第10百分位数。产科超声在股骨近端局灶性缺损的产前诊断中很重要，因为早期识别这种畸形可为父母和医生提供有关新生儿管理和治疗计划的有用信息。
