Moerman P, Vandenberghe K, Fryns J P, Haspeslagh M, Lauweryns J M
Clin Genet. 1985 Feb;27(2):160-4. doi: 10.1111/j.1399-0004.1985.tb00204.x.
We describe here a female infant, exhibiting lethal short-limbed dwarfism. The condition superficially resembled achondrogenesis. However, unlike achondrogenesis there was an associated severe spondylocostal dysostosis and major non-skeletal anomalies, particularly a cerebellar Dandy-Walker cyst, cardiovascular and urogenital malformations. The chondroosseous morphology was nonspecific. The case is believed to be unique. It is therefore suggested that this constellation of anomalies constitutes a "new" lethal syndrome, different from the delineated chondrodysplasias.
我们在此描述一名患有致死性短肢侏儒症的女婴。该病症表面上类似于软骨发育不全。然而，与软骨发育不全不同的是，它伴有严重的脊柱肋骨发育不良以及主要的非骨骼异常，特别是小脑Dandy-Walker囊肿、心血管和泌尿生殖系统畸形。软骨骨形态不具有特异性。该病例被认为是独特的。因此，有人提出这一系列异常构成了一种“新”的致死性综合征，不同于已描述的软骨发育异常。
