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Related Experiment Videos

Fraser-cryptophthalmos syndrome.

M Kabra1, S Gulati, M Ghosh

  • 1Department of Pediatrics, All India Institute of Medical Sciences, New Delhi.

Indian Journal of Pediatrics
|December 6, 2000
PubMed
Summary
This summary is machine-generated.

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Fraser syndrome, a condition with variable presentation, includes hidden eyes and other abnormalities. This report details three cases, differentiating between Fraser syndrome and isolated cryptophthalmos.

Area of Science:

  • Genetics and Developmental Biology
  • Medical Genetics
  • Clinical Dysmorphology

Background:

  • Fraser syndrome is a complex genetic disorder characterized by a range of physical abnormalities.
  • Key features include cryptophthalmos (hidden eye), craniofacial anomalies, renal defects, syndactyly, and ambiguous genitalia.
  • The syndrome exhibits variable expressivity, with cryptophthalmos not always present.

Observation:

  • This study reports on three cases involving cryptophthalmos.
  • One case presented with cryptophthalmos syndrome, including renal agenesis.
  • Two cases were classified as isolated cryptophthalmos or cryptophthalmos sequence.

Findings:

  • Cryptophthalmos syndrome typically follows an autosomal recessive inheritance pattern.

Related Experiment Videos

  • Isolated cryptophthalmos has been associated with an autosomal dominant trait.
  • Prenatal diagnosis of these conditions is feasible via ultrasonography and fetoscopy.

    • Implications:

    • Accurate classification of cryptophthalmos presentations is crucial for genetic counseling.
    • Understanding inheritance patterns aids in predicting recurrence risks.
    • Advances in prenatal diagnostics improve early detection and management strategies.