Schimke immuno-osseous dysplasia: Case report and review

M. D. Ludman; D. E.C. Cole; J. F.S. Crocker; M. M. Cohen

doi:10.1002/ajmg.1320470538

Schimke immuno-osseous dysplasia: Case report and review

M. D. Ludman, D. E.C. Cole, J. F.S. Crocker, M. M. Cohen

Medicine

Medicine

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Abstract

We report on a patient with Schimke immuno-osseous dysplasia, an autosomal recessive disorder, and review nine patients from the literature. Manifestations include spondyloepiphyseal dysplasia, lymphopenia, signs of defective cellular immunity, and progressive renal disease. This is the first patient known to have the additional findings of thrombocytopenia and macrodontia.

Original language	English
Pages (from-to)	793-796
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	47
Issue number	5
DOIs	https://doi.org/10.1002/ajmg.1320470538
Publication status	Published - 1993

ASJC Scopus Subject Areas

Genetics(clinical)

PubMed: MeSH publication types

Case Reports
Journal Article
Review

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10.1002/ajmg.1320470538

Cite this

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abstract = "We report on a patient with Schimke immuno-osseous dysplasia, an autosomal recessive disorder, and review nine patients from the literature. Manifestations include spondyloepiphyseal dysplasia, lymphopenia, signs of defective cellular immunity, and progressive renal disease. This is the first patient known to have the additional findings of thrombocytopenia and macrodontia.",

author = "Ludman, {M. D.} and Cole, {D. E.C.} and Crocker, {J. F.S.} and Cohen, {M. M.}",

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AB - We report on a patient with Schimke immuno-osseous dysplasia, an autosomal recessive disorder, and review nine patients from the literature. Manifestations include spondyloepiphyseal dysplasia, lymphopenia, signs of defective cellular immunity, and progressive renal disease. This is the first patient known to have the additional findings of thrombocytopenia and macrodontia.

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Schimke immuno-osseous dysplasia: Case report and review

Abstract

ASJC Scopus Subject Areas

PubMed: MeSH publication types

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