先天性皮肤发育不全合并眼球皮样囊肿：眼外胚层综合征综合征特征的进一步证据。
Aplasia cutis congenita with epibulbar dermoids: further evidence for syndromic identity of the ocular ectodermal syndrome.
作者信息
Gardner J, Viljoen D
机构信息
Department of Human Genetics, University of Cape Town, Medical School, South Africa.
出版信息
Am J Med Genet. 1994 Dec 1;53(4):317-20. doi: 10.1002/ajmg.1320530403.
PMID:7864039
Abstract
We have investigated 2 young South African girls with aplasia cutis congenita, epibulbar dermoids, and strabismus. This unique association of anomalies was first documented in two unrelated boys by Toriello et al. [1993: Am. J. Med. Genet. 45:764-766]. Our clinical and histological findings are markedly similar, and we think this to be the second report of individuals with this rare syndrome.
摘要
我们对两名患有先天性皮肤发育不全、眼球皮样囊肿和斜视的南非年轻女孩进行了研究。这种独特的异常关联首次由托列洛等人在两名无血缘关系的男孩中记录下来[1993年：《美国医学遗传学杂志》45:764 - 766]。我们的临床和组织学发现显著相似，我们认为这是关于这种罕见综合征患者的第二篇报道。
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