Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype - PubMed (original) (raw)
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Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype
A L Ogilvy-Stuart et al. J Med Genet. 1991 Oct.
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.
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References
- J Pediatr. 1979 Dec;95(6):970-5 - PubMed
- Am J Med Genet. 1986 Oct;25(2):293-7 - PubMed
- J Med Genet. 1987 Jul;24(7):422-5 - PubMed
- Anaesthesia. 1987 Aug;42(8):871-4 - PubMed
- Clin Genet. 1989 Feb;35(2):157-60 - PubMed
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