Summary
A 15-year-old girl affected by autosomal recessive 3-M slender boned nanism (3-MSBN) was studied. The clinically normal parents, two other obligate and two probable heterozygotes for the 3-MSBN gene from an unrelated family were radiologically investigated. All except one probable heterozygote showed mild features of the 3-MSBN, mainly bone slenderness and prominent talus. These findings are interpreted as demonstrative of the heterozygotic expression of the 3-MSBN gene.
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References
Cantú, J. M., García-Cruz, D., Sánchez-Corona, J., Fragoso, R., Hernández, A., Nazará-Cazorla, A.: 3-M Slender boned nanism. A distinct autosomal recessive intrauterine growth retardation syndrome. Am. J. Dis. Child. (in press, 1979)
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Spranger, J., Opitz, J. M., Nourmand, J.: A new familial intrauterine growth retardation syndrome. The 3-M syndrome. Eur. J. Pediatr. 123, 115–124 (1976)
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García-Cruz, D., Cantú, J.M. Heterozygous expression in 3-M slender-boned nanism. Hum Genet 52, 221–226 (1979). https://doi.org/10.1007/BF00271577
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DOI: https://doi.org/10.1007/BF00271577