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Research Article
The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.
  1. T I Farag,
  2. S A al-Awadi,
  3. M J Marafie,
  4. L Bastaki,
  5. S A al-Othman,
  6. F M Mohammed,
  7. I S AlSuliman,
  8. D S Murthy
  1. Kuwait Medical Genetics Centre, Maternity Hospital, Sulibikhat.

    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.

    https://doi.org/10.1136/jmg.30.1.62

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