Characteristic diagnostic clues of metatropic dysplasia: The lumbothoracic humpback with dumbbell ap...
Characteristic diagnostic clues of metatropic dysplasia: The lumbothoracic humpback with dumbbell appearance of the long bones
About this item
Full title
Author / Creator
Gucev, Z , Kalcev, G , Laban, N , Bozinovski, Z , Popovski, N , Saveski, A , Daskalov, B , Plaseska-Karanfilska, D and Tasic, V
Publisher
Poland: Sciendo
Journal title
Language
English
Formats
Publication information
Publisher
Poland: Sciendo
Subjects
More information
Scope and Contents
Contents
Metatropic dysplasia (MD) is a rare skeletal dysplasia associated with heterozygous mutations in the
gene. We describe a 28-month-old boy with knock-knees referred for metabolic investigation suspected of carrying vitamin D-resistant rickets. He has received regular vitamin D prophylaxis at the usual dose. Laboratory investigations revealed norm...
Alternative Titles
Full title
Characteristic diagnostic clues of metatropic dysplasia: The lumbothoracic humpback with dumbbell appearance of the long bones
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_7d14e12ffd774141aa92b9c4b0ad8f94
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7d14e12ffd774141aa92b9c4b0ad8f94
Other Identifiers
ISSN
1311-0160
E-ISSN
2199-5761,1311-0160
DOI
10.2478/bjmg-2018-0025
