Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype.

Abstract

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.

• Authors: A L Ogilvy-Stuart, A C Parsons
• Journal: Journal of medical genetics (J Med Genet) Vol. 28 Issue 10 Pg. 695-700 (Oct 1991) ISSN: 0022-2593 [Print] England
• PMID: 1941965 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Female
• Genes, Recessive
• Humans
• Infant
• Male
• Mandibulofacial Dysostosis (genetics)
• Phenotype
• Syndrome