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Association of kyphomelic dysplasia with severe combined immunodeficiency.
Am J Med Genet. 1995 Jul 17; 57(4):626-9.AJ

Abstract

Kyphomelic dysplasia is a distinct, rare, skeletal dysplasia with short angulated femora, bowing of long bones, short ribs, narrow thorax, and metaphyseal abnormalities. While immune deficiency occurs in other short stature/short-limb skeletal dysplasias and cartilage-hair hypoplasia, it has not been described with kyphomelic dysplasia. We report on an infant with this disorder who had profound humoral and cellular immunologic abnormalities consistent with severe combined immune deficiency (SCID). The infant died at age 2 months of overwhelming cytomegalovirus pneumonia. Kyphomelic dysplasia, as with other short stature/short-limb skeletal dysplasias, can be associated with immune deficiency and immune function should be investigated when this disorder is identified.

Authors+Show Affiliations

Sections of Pediatric Allergy and Immunology, West Virginia University, Morgantown 26505, USA.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7573142

Citation

Corder, W T., et al. "Association of Kyphomelic Dysplasia With Severe Combined Immunodeficiency." American Journal of Medical Genetics, vol. 57, no. 4, 1995, pp. 626-9.
Corder WT, Hummel M, Miller C, et al. Association of kyphomelic dysplasia with severe combined immunodeficiency. Am J Med Genet. 1995;57(4):626-9.
Corder, W. T., Hummel, M., Miller, C., & Wilson, N. W. (1995). Association of kyphomelic dysplasia with severe combined immunodeficiency. American Journal of Medical Genetics, 57(4), 626-9.
Corder WT, et al. Association of Kyphomelic Dysplasia With Severe Combined Immunodeficiency. Am J Med Genet. 1995 Jul 17;57(4):626-9. PubMed PMID: 7573142.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association of kyphomelic dysplasia with severe combined immunodeficiency. AU - Corder,W T, AU - Hummel,M, AU - Miller,C, AU - Wilson,N W, PY - 1995/7/17/pubmed PY - 1995/7/17/medline PY - 1995/7/17/entrez SP - 626 EP - 9 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 57 IS - 4 N2 - Kyphomelic dysplasia is a distinct, rare, skeletal dysplasia with short angulated femora, bowing of long bones, short ribs, narrow thorax, and metaphyseal abnormalities. While immune deficiency occurs in other short stature/short-limb skeletal dysplasias and cartilage-hair hypoplasia, it has not been described with kyphomelic dysplasia. We report on an infant with this disorder who had profound humoral and cellular immunologic abnormalities consistent with severe combined immune deficiency (SCID). The infant died at age 2 months of overwhelming cytomegalovirus pneumonia. Kyphomelic dysplasia, as with other short stature/short-limb skeletal dysplasias, can be associated with immune deficiency and immune function should be investigated when this disorder is identified. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7573142/Association_of_kyphomelic_dysplasia_with_severe_combined_immunodeficiency_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1995&volume=57&issue=4&spage=626 DB - PRIME DP - Unbound Medicine ER -