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

Author

Farag TI, al-Awadi SA, Marafie MJ, Bastaki L, al-Othman SA, Mohammed FM, AlSuliman IS, and Murthy DS

Subjects
Adolescent, Adult, Consanguinity, Female, Genes, Recessive, Humans, Infant, Newborn, Iraq, Male, Syndrome, Abnormalities, Multiple genetics, Ectromelia genetics, Mullerian Ducts abnormalities, Pelvic Bones abnormalities
Abstract

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

Published
1993
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