Gembruch U, Niesen M, Kehrberg H, Hansmann M
Abteilung für Präntale Diagnostik und Therapie, Universitäts-Frauenklinik, Bonn-Venusberg, F.R.G.
Prenat Diagn. 1988 Sep;8(7):539-45. doi: 10.1002/pd.1970080709.
In a pregnant woman without increased genetic risk, the presence of distrophic dysplasia of the fetus was diagnosed sonographically at 31 weeks' gestation and definitively distinguished from other skeletal dysplasias. In all prenatal diagnosis of diastrophic dysplasia reported so far, this autosomal recessive congenital condition had occurred in the family's previous children and this made the diagnoses of fetal diastrophic dysplasia easier. The reported case was diagnosed due to evidence of an extreme shortening of all long bones of the extremities associated with other skeletal deformities which, taken as a whole, are typical of this syndrome: micrognathia, cervical kyphosis, persistent extension limitation in elbow and knee joints, club feet, ulnar diviation of hands, shortened phalanges, and, in particular, abduction of thumbs ('hitchhiker thumbs') and big toes.
在一名无遗传风险增加的孕妇中，在妊娠31周时通过超声诊断出胎儿患有营养不良性发育不良，并与其他骨骼发育不良明确区分开来。在迄今为止报道的所有产前诊断的软骨发育不良病例中，这种常染色体隐性先天性疾病曾出现在该家庭的前几个孩子身上，这使得胎儿软骨发育不良的诊断更容易。该报道病例的诊断依据是四肢所有长骨极度缩短并伴有其他骨骼畸形，总体来看，这些表现是该综合征的典型特征：小颌畸形、颈椎后凸、肘关节和膝关节持续伸展受限、马蹄内翻足、手部尺侧偏斜、指骨缩短，特别是拇指（“搭便车拇指”）和大脚趾外展。
