A familial syndrome of short stature, deformities of the hands and feet, and an unusual facies.

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作者信息

Emery A E, Nelson M M

出版信息

J Med Genet. 1970 Dec;7(4):379-82. doi: 10.1136/jmg.7.4.379.

DOI:10.1136/jmg.7.4.379

PMID:5501704

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1468949/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4e18/1468949/9d3ae2f55618/jmedgene00371-0078-a.jpg

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本文引用的文献

METAPHYSIAL DYSOSTOSIS, TYPE SCHMID.

Arch Dis Child. 1964 Oct;39(207):444-54. doi: 10.1136/adc.39.207.444.

DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME.

Bull Johns Hopkins Hosp. 1964 Oct;115:306-36.

THE METACARPAL INDEX. A USEFUL AID IN THE DIAGNOSIS OF THE MARFAN SYNDROME.

Arch Intern Med. 1964 Feb;113:248-54. doi: 10.1001/archinte.1964.00280080084016.

[Familial metaphysial dysostosis. Study of 4 cases in siblings].

Helv Paediatr Acta. 1961 Dec;16:836-49.

Achondroplasia in man and animals.

Clin Orthop Relat Res. 1964 Mar-Apr;33:91-103.

Cartilage-hair hypoplasia. A case report.

J Bone Joint Surg Am. 1968 Sep;50(6):1245-9.

Conradi's disease. Chondrodystrophia calcificans congenita, congenital stippled epiphyses.

J Pediatr. 1968 Jan;72(1):63-9. doi: 10.1016/s0022-3476(68)80401-9.

Cranio-carop-tarsal dysplasia or the whistling face syndrome. I. Clinical considerations.

Am J Dis Child. 1969 Apr;117(4):427-33. doi: 10.1001/archpedi.1969.02100030429007.

Diastrophic dwarfism.

Arch Dis Child. 1969 Feb;44(233):48-58. doi: 10.1136/adc.44.233.48.

Peripheral dysostosis: investigation of metabolic and endocrine functions.

J Pediatr. 1969 May;74(5):730-7. doi: 10.1016/s0022-3476(69)80135-6.

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