The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: Report of a Bedouin patient and review

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Abstract

A Bedouin infant born to consanguineous parents and grandparents is reported. She had Mullerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed.

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Farag, T. I., Al-Awadi, S. A., Marafie, M. J., Bastaki, L., Al-Othman, S. A., Mohammed, F. M., … Murthy, D. S. K. (1993). The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: Report of a Bedouin patient and review. Journal of Medical Genetics, 30(1), 62–64. https://doi.org/10.1136/jmg.30.1.62

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