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Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.
  1. M A Sabry,
  2. D Obenbergerova,
  3. R Al-Sawan,
  4. Q A Saleh,
  5. S Farah,
  6. S A Al-Awadi,
  7. T I Farag
  1. Medical Genetics Centre, Maternity Hospital, Kuwait.

    Abstract

    A male Bedouin baby with the clinical profile of femoral hypoplasia-unusual facies syndrome is described. The phenotype includes bilateral asymmetrical lower limb hypoplasia/aplasia with short remnants of both femora, absent right tibia, bifid right big toe, dysmorphic facies, thoracic/pelvic abnormalities, macrophallus, and bilateral cryptorchidism. This report re-emphasises the previously described rare association of femoral hypoplasia-unusual facies syndrome with preaxial polydactyly and suggests that the clinical spectrum of the syndrome could be stretched further to accommodate other unusual traits, for example, macrophallus and absent tibia.

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