Summary
This paper reports the physical and cytogenetic findings in an eight-year-old severely mentally retarded female child with the following features: tetraphocomelia; weight, lenght, and head circumference below the third percentile; microcephaly with prominent frontal bones; hypertelorism; shallow orbits; prominent eyes; bilateral corneal opacities; micrognathia; hypoplastic alae nasi; small, low set ears; short neck; sparse silvery blond hair; severe flexion deformities of both knees and wrist joints; a cardiac murmur. Cytogenetic studies revealed premature centromere separation.
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Leonard, P., Rendle-Short, J. & Skardoon, L. Roberts' — SC phocomelia syndrome with cytogenetic findings. Hum Genet 60, 379–380 (1982). https://doi.org/10.1007/BF00569225
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DOI: https://doi.org/10.1007/BF00569225