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Related Experiment Videos

Prenatal diagnosis of Rambam-Hasharon syndrome

M Frydman1, D Vardimon, E Shalev

  • 1Department of Pediatrics, Hasharon Hospital, Petah Tiqva, Israel.

Prenatal Diagnosis
|March 1, 1996
PubMed
Summary

Rambam-Hasharon syndrome (RHS) is an inborn error of fucose metabolism causing intellectual disability and growth issues. This study reports the first prenatal diagnosis of RHS, identifying the Bombay blood type in an affected female fetus.

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Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Rambam-Hasharon syndrome (RHS) is a rare autosomal recessive disorder affecting fucose metabolism.
  • Clinical manifestations include intellectual disability, short stature, coarse facies, and recurrent infections.
  • Deficiencies in fucosylated proteoglycans are characteristic of RHS.