家族性轴后性肢端面部发育不全综合征 - Suppr

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Familial postaxial acrofacial dysostosis syndrome.

作者信息

Giannotti A, Digilio M C, Virgili Q, Obregon M G, Guadagni A M, Ventura T, Dallapiccola B

机构信息

Servizio di Genetica Medica, Ospedale Bambino Gesù, Rome, Italy.

出版信息

J Med Genet. 1992 Oct;29(10):752. doi: 10.1136/jmg.29.10.752.

DOI:10.1136/jmg.29.10.752

PMID:1433242

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016141/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c18/1016141/ff9047a4a32f/jmedgene00024-0074-a.jpg

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引用本文的文献

A variant or a "new" postaxial acrofacial dysostosis syndrome.

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本文引用的文献

Recurrence of the postaxial acrofacial dysostosis syndrome in a sibship: implications for genetic counseling.

J Pediatr. 1981 Jan;98(1):87-8. doi: 10.1016/s0022-3476(81)80546-x.

The Genée-Wiedemann syndrome, an acrofacial dysostosis--further observation.

Am J Med Genet. 1987 Aug;27(4):971-5. doi: 10.1002/ajmg.1320270427.

Robin sequence and oligodactyly in mother and son--probably a further example of the postaxial acrofacial dysostosis syndrome.

Am J Med Genet. 1987 Aug;27(4):953-7. doi: 10.1002/ajmg.1320270423.

Genée-Wiedemann syndrome in a family.

Am J Med Genet. 1990 Oct;37(2):293. doi: 10.1002/ajmg.1320370232.

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

J Med Genet. 1991 Oct;28(10):695-700. doi: 10.1136/jmg.28.10.695.

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