Document Detail

Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.
MedLine Citation:
PMID:  1999827     Owner:  NLM     Status:  MEDLINE    
We report two patients with severe combined immunodeficiency and short stature/short limb skeletal dysplasia. Case 1 presented at birth with rhizomelic shortening of the extremities and bowing of the femora. She developed clinical signs of severe combined immunodeficiency at 13 months and died at 21 months. Case 2 had severe prenatal shortening and bowing of the extremities and a small, malformed chest. Symptoms of severe combined immunodeficiency and severe failure to thrive developed soon after birth and she died at 5 months. The diagnosis of severe combined immunodeficiency in our patients was based on their clinical course and necropsy findings, supported in case 1 by the results of immune function tests. The results of investigation of immune function (immunoglobulins, lymphocyte subpopulations, lymphocyte function) are very variable in this syndrome as in other variants of severe combined immunodeficiency. Bone histopathology in both patients showed grossly irregular costochondral junctions, but normal transition of proliferating to hypertrophic chondrocytes. These cases belong to early lethal type 1 short limb skeletal dysplasia with severe combined immunodeficiency. Review of previously published cases with severe combined immunodeficiency and well documented skeletal findings show eight patients with prenatal onset of bowing and shortening of the extremities and metaphyseal abnormalities. These include two sib pairs concordant for the skeletal changes. In these cases, adenosine deaminase levels were not reported. An additional four published cases with associated adenosine deaminase deficiency had only mild metaphyseal abnormalities, but subsequently showed no linear growth.(ABSTRACT TRUNCATED AT 250 WORDS)
K D MacDermot; R M Winter; J S Wigglesworth; S Strobel
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Journal of medical genetics     Volume:  28     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1991 Jan 
Date Detail:
Created Date:  1991-04-11     Completed Date:  1991-04-11     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  10-7     Citation Subset:  IM    
Kennedy Galton Centre, Clinical Research Centre, Northwick Park Hospital, Harrow, Middlesex.
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MeSH Terms
Adenosine Deaminase / drug effects
Bone Diseases, Developmental / complications,  genetics,  pathology
Dwarfism / complications,  genetics*
Femur / abnormalities
Genes, Recessive
Immunologic Deficiency Syndromes / complications,  genetics*
Infant, Newborn
Reg. No./Substance:
EC Deaminase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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