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Logo of jmedgeneJournal of Medical GeneticsCurrent TOCInstructions for authors
J Med Genet. Feb 1996; 33(2): 165–167.
PMCID: PMC1051846
Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.
M A Sabry, D Obenbergerova, R Al-Sawan, Q A Saleh, S Farah, S A Al-Awadi, and T I Farag
Medical Genetics Centre, Maternity Hospital, Kuwait.
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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