Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype.
A sibship with postaxial acrofacial dysostosis syndrome (Miller syndrome) is reported. In addition to the characteristic facial and limb defects, previously undescribed anomalies, including midgut malrotation, gastric volvulus, and renal anomalies, are recorded.
Department of Paediatrics, Taranaki Base Hospital, New Plymouth, New Zealand.
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AL
Ogilvy-Stuart
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AC
Parsons
D000328:Adult; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome