Willems P J, Colpaert C, Vaerenbergh M, Van Thienen M N, Parizel P M, Van Marck E, Schuerwegh W H, Martin J J
Department of Medical Genetics, University of Antwerp-U.I.A., Belgium.
Am J Med Genet. 1993 Aug 1;47(1):106-11. doi: 10.1002/ajmg.1320470122.
We report on a fetus with multiple pterygia in the popliteal, antecubital, intercrural, axillary, and nuchal region, arthrogryposis, camptodactyly, anal atresia, hypospadias, ambiguous genitalia, and neonatal death. Arthrogryposis was much more pronounced at the left than at the right side. Moreover, there was gross body asymmetry with hypoplasia of the left arm, leg, pelvis, and kidney. As this spectrum of anomalies does not fit any of the known multiple pterygium syndromes, this patient adds another clinical entity to the already wide spectrum of multiple pterygium syndromes.
我们报告了一例胎儿，其在腘窝、肘前、股间、腋窝和颈部区域有多处翼状胬肉，伴有关节挛缩、屈曲指、肛门闭锁、尿道下裂、生殖器模糊及新生儿死亡。关节挛缩在左侧比右侧更为明显。此外，存在全身明显不对称，伴有左臂、腿、骨盆和肾脏发育不全。由于这种异常谱不符合任何已知的多发性翼状胬肉综合征，该患者在已经广泛的多发性翼状胬肉综合征谱中又增加了一种临床类型。
