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[Duplication of the femur, imperforate anus and polydactyly in a stillborn infant].

An unusual case of stillborn fetus with imperforate anus and left lower limb malformation is described. The principal features were: femoral duplication, muscular atrophy below the knee, heel malformation with absence of calcaneous bone, presence of nine toes of the left foot associated with imperforate anus and with presence of cutaneous tag on the left buttock. No similar case reports are known by the Authors at the present time.

Abnormalities, Multiple↗

Nager acrofacial dysostosis and preaxial polydactyly: a further example with lethal outcome.

A sporadic malformed premature stillborn showing the typical craniofacial features of mandibulofacial dysostosis combined with unilateral extra thumb and visceral anomalies is described and classified as a preaxial acrofacial dysostosis of the Nager type (NAFD). Comparison with other rare similar cases reported in the literature is made and genetic heterogeneity discussed.

Abnormalities, Multiple↗