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Related Experiment Videos

Three siblings with Robert's syndrome.

L Zergollern, F Hitrec

    Clinical Genetics
    |April 1, 1976
    PubMed
    Summary
    This summary is machine-generated.

    This study details Robert syndrome cases in a Yugoslavian family, highlighting severe limb malformations and other congenital anomalies. The findings support a genetic basis, likely a single recessive gene mutation, for this rare condition.

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    Area of Science:

    • Medical Genetics
    • Clinical Dysmorphology
    • Pediatric Case Study

    Background:

    • Robert syndrome is a rare genetic disorder characterized by severe limb malformations and craniofacial abnormalities.
    • Understanding the phenotypic spectrum and genetic underpinnings of Robert syndrome is crucial for diagnosis and genetic counseling.

    Purpose of the Study:

    • To describe a family with three infants diagnosed with Robert syndrome.
    • To document the specific clinical features observed in these affected individuals.
    • To contribute to the understanding of Robert syndrome's etiology and prevalence.

    Main Methods:

    • Clinical examination of three infants from a Yugoslavian family.
    • Detailed documentation of physical malformations and congenital anomalies.

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  • Review of existing literature to compare with reported cases.

    • Main Results:

    • The study describes one female and two male infants with Robert syndrome.
    • Key features included tetraphocomelia, cleft lip/palate, ectrodactyly, syndactyly, hypertelorism with exophthalmos, congenital heart defect, and failure to thrive.
    • These cases increase the total reported instances of Robert syndrome to 26, including questionable diagnoses.

    Conclusions:

    • The observed constellation of anomalies in this family is consistent with Robert syndrome.
    • The findings reinforce the hypothesis that Robert syndrome is primarily caused by a major single recessive gene mutation.
    • Further research into the genetic basis of Robert syndrome is warranted.