title: Nager acrofacial dysostosis and preaxial polydactyly: a further example with lethal outcome.
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.
authors.affiliation: Centre for Human Genetics, University of Leuven, Belgium.
authors.forename: P
authors.initials: P
authors.lastname: Petit
authors.forename: P
authors.initials: P
authors.lastname: Moerman
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000015:Abnormalities, Multiple; D004424:Ear Canal / Q000002:abnormalities; D004431:Ear, External / Q000002:abnormalities; D005313:Fetal Death / Q000209:etiology*; D006330:Heart Defects, Congenital; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities; D008297:Male; D008342:Mandibulofacial Dysostosis; D013933:Thumb / Q000002:abnormalities*