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Genet Couns. 1993;4(2):135-7.

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

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  • 1Centre for Human Genetics, University of Leuven, Belgium.

Abstract

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.

PMID:
8357565
[PubMed - indexed for MEDLINE]
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