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Related Experiment Videos

The Summitt syndrome: observations on a third case.

C J Sells, J W Hanson, J G Hall

    American Journal of Medical Genetics
    |January 1, 1979
    PubMed
    Summary

    This study details a male child with multiple congenital anomalies including acrocephaly and limb malformations. Genetic analysis suggests possible autosomal recessive inheritance for this rare condition.

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    Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

    Clinical genetics·2013

    Area of Science:

    • Medical Genetics
    • Pediatric Orthopedics
    • Clinical Dysmorphology

    Background:

    • A 6.5-year-old male presented with a constellation of congenital anomalies.
    • Key features included acrocephaly, brachydactyly, clinodactyly, syndactyly, genu valgum, and obesity.