Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.

نویسندگان

  • M A Sabry
  • D Obenbergerova
  • R Al-Sawan
  • Q A Saleh
  • S Farah
  • S A Al-Awadi
  • T I Farag
چکیده

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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منابع مشابه

[Femoral hypoplasia-unusual facies syndrome: A case report].

INTRODUCTION Femoral hypoplasia-unusual facies syndrome is a rare disease with variable expressivity, although cases have been reported with an autosomal dominant pattern. It particularly affects the structures of the face associated with hypoplasia of the femur. Its aetiology is relatively unknown. However, this syndrome has been associated with maternal diabetes, drug exposure, viral infectio...

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عنوان ژورنال:
  • Journal of medical genetics

دوره 33 2  شماره 

صفحات  -

تاریخ انتشار 1996