Literature DB >> 1642262

Dominant syndrome with isolated cryptophthalmos and ocular anomalies.

H M Saal1, E I Traboulsi, P Gavaris, C A Samango-Sprouse, M Parks.   

Abstract

We report on a mother and daughter with nonsyndromal cryptophthalmos. Both patients have additional ocular anomalies, including microphthalmia, retinal dysplasia, and Peters anomaly. The periocular and lid changes seen in these individuals are distinct from those seen in typical cryptophthalmos. The apparent dominant mode of inheritance in this family distinguishes this condition from autosomal recessive isolated cryptophthalmos and from the Fraser or cryptophthalmos syndrome.

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Year:  1992        PMID: 1642262     DOI: 10.1002/ajmg.1320430505

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  Cryptophthalmos.

Authors:  S Kanhere; V Phadke; A Mathew; S F Irani
Journal:  Indian J Pediatr       Date:  1999 Sep-Oct       Impact factor: 1.967

Review 2.  Rehabilitation of a child with partial unilateral cryptophthalmos and multiple congenital anomalies.

Authors:  H Konrad; J C Merriam; I S Jones
Journal:  Trans Am Ophthalmol Soc       Date:  1995

Review 3.  Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives.

Authors:  Hatem A Tawfik; Mohamed H Abdulhafez; Yousef A Fouad
Journal:  Ophthalmic Plast Reconstr Surg       Date:  2015 Jan-Feb       Impact factor: 1.746

  3 in total

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