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Isolated and syndromic cryptophthalmos.

I T Thomas, J L Frias, V Felix

    American Journal of Medical Genetics
    |September 1, 1986
    PubMed
    Summary
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    Cryptophthalmos syndrome, a genetic disorder, involves eye malformations and often kidney agenesis. It suggests autosomal recessive inheritance and should be considered in congenital malformation diagnoses.

    Area of Science:

    • Medical Genetics
    • Developmental Biology
    • Clinical Dysmorphology

    Background:

    • The cryptophthalmos syndrome, characterized by eye malformations and associated anomalies, has been recognized for over a century.
    • Recent reports of cases lacking cryptophthalmos have led to the adoption of the eponymic designation Fraser syndrome.
    • Understanding the genetic basis and phenotypic spectrum is crucial for accurate diagnosis and management.

    Observation:

    • Seven cases of cryptophthalmos syndrome were analyzed, including three affected sibling pairs.
    • All presented with cryptophthalmos and bilateral renal agenesis, alongside other congenital malformations.
    • A literature review identified 124 cases, with 97 exhibiting multiple congenital malformations.

    Findings:

    • Established diagnostic criteria (4 major, 8 minor) classified 86 out of 124 reviewed cases as cryptophthalmos syndrome.

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  • Cryptophthalmos syndrome shows equal sex distribution, familial occurrence, and consanguinity, suggesting autosomal recessive inheritance.
  • Isolated cryptophthalmos or cryptophthalmos sequence presented sporadically in 16 cases and familially in 11, with vertical transmission in familial cases.

    • Implications:

    • Cryptophthalmos syndrome should be included in the differential diagnosis of multiple congenital malformations, particularly with renal agenesis, even without cryptophthalmos.
    • The pathogenesis remains unknown, but parallels exist with animal models of vitamin A deficiency and programmed cell death defects.
    • Further research into the genetic and molecular underpinnings is warranted for improved diagnostic and therapeutic strategies.