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February 1985

The Martin-Bell Syndrome: The Physician's Dilemma

Author Affiliations

Department of Medical Genetics Indiana University School of Medicine 702 Barnhill Dr, RR129 Indianapolis, IN 46223

Am J Dis Child. 1985;139(2):116. doi:10.1001/archpedi.1985.02140040014014

Sir.—The fragile X-positive form of the Martin-Bell syndrome is a wellrecognized cause of X-linked mental retardation. In addition to mental retardation and the fragile X chromosome, the condition is characterized by macrocephaly, large or prominent ears, relatively long and narrow face, prominent mandible, high-arched palate, macro-orchidism, verbal disability, and behavioral disturbances.1 The diagnosis is usually made by demonstrating the fragile X chromosome in individuals with a family history suggesting X-linked mental retardation, by screening for the aforementioned physical and chromosomal abnormalities in mentally retarded males, or by detecting the fragile X as an incidental cytogenetic finding.2,3 Here we report the sporadic occurrence of the Martin-Bell syndrome in a 6-year-old, normalappearing boy with severe retardation, and we wish to stress the importance of routinely screening retarded individuals for this condition.

Report of a Case.—The pregnancy, labor, and delivery of the child were uncomplicated. His development had always