Literature DB >> 6264788

Cryptophthalmos syndrome with bilateral renal agenesis.

F Codère, S Brownstein, M F Chen.   

Abstract

We conducted a postmortem study of an infant with the abortive form of the cryptophthalmos syndrome. He had syndactyly and anal atresia and also showed features of Potter's (renal nonfunction) syndrome, including bilateral renal agenesis, pulmonary hypoplasia, and the typical facies. Histopathologic examination of both globes disclosed that the superior eyelid folds were partially replaced by skin that fused with the superior third of each cornea; there were also anomalies of the superior canaliculi and scarring of the corneas. We found no specific abnormality of the intraocular contents.

Entities:  

Mesh:

Year:  1981        PMID: 6264788     DOI: 10.1016/0002-9394(81)90006-4

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN: 0002-9394            Impact factor:   5.258


  2 in total

Review 1.  The clinical spectrum of the Fraser syndrome: report of three new cases and review.

Authors:  J Gattuso; M A Patton; M Baraitser
Journal:  J Med Genet       Date:  1987-09       Impact factor: 6.318

Review 2.  Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.

Authors:  A M Slavotinek; C J Tifft
Journal:  J Med Genet       Date:  2002-09       Impact factor: 6.318

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.