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J Med Genet. 1996 February; 33(2): 165–167.
PMCID: PMC1051846

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


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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Selected References

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  • Goldberg RB, Fish B, Cohen MM, Jr, Shprintzen RJ. Bilateral femoral dysgenesis syndrome: a case report. Cleft Palate J. 1978 Oct;15(4):386–389. [PubMed]
  • Pitt DB, Findlay II, Cole WG, Rogers JG. Case report: femoral hypoplasia - unusual facies syndrome. Aust Paediatr J. 1982 Mar;18(1):63–66. [PubMed]
  • Baraitser M, Reardon W, Oley C, Fixsen J. Femoral hypoplasia unusual facies syndrome with preaxial polydactyly. Clin Dysmorphol. 1994 Jan;3(1):40–45. [PubMed]
  • Giavini E. Diabetes in pregnancy: experimental aspects. Ann Ist Super Sanita. 1993;29(1):27–34. [PubMed]
  • Martínez-Frías ML, Bermejo E, Cereijo A. Preaxial polydactyly of feet in infants of diabetic mothers: epidemiological test of a clinical hypothesis. Am J Med Genet. 1992 Mar 1;42(5):643–646. [PubMed]

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