Fryns J P, Moerman P
Centre for Human Genetics, Leuven, Belgium.
J Med Genet. 1993 Apr;30(4):322-4. doi: 10.1136/jmg.30.4.322.
A male newborn with acromesomelic short limbed dwarfism, genital hypoplasia, and vertebral anomalies is reported. As the child had an important number of clinical and radiological symptoms seen in patients with Ellis-van Creveld syndrome, we raise the question of whether he may represent a variant example of this syndrome despite the absence of cardinal symptoms such as postaxial polydactyly and ectodermal changes (nail hypoplasia).
报道了一名患有肢端中胚层短肢侏儒症、生殖器发育不全和脊柱异常的男性新生儿。由于该患儿出现了埃利斯-范克里维尔德综合征患者身上常见的大量临床和放射学症状，因此我们提出一个问题：尽管他没有轴后多指畸形和外胚层改变（指甲发育不全）等主要症状，但他是否可能是该综合征的一个变异病例。
