Schmid metaphyseal chondrodysplasia: consideration in differential diagnosis of rickets

Parvathy Lalitha; Ann Mary Catherine

doi:10.18203/2349-3291.ijcp20243869

Authors

Parvathy Lalitha Division of Pediatric Endocrinology, Child and Adolescent Health, Aster Medcity, Kochi, Kerala, India
Ann Mary Catherine Department of Child and Adolescent Health, Aster Medcity, Kochi, Kerala, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20243869

Keywords:

Schmid metaphyseal chondrodysplasia, Differential diagnosis of rickets, COL10A1 mutation

Abstract

Schmid metaphyseal chondrodysplasia is a rare inherited cause of skeletal dysplasia caused by COL10A1 gene mutation, characterized by skeletal abnormalities and progressive short stature not usually associated with any other major anomalies or cognitive disability. We report a case of a 3-year-old girl with short stature, genu varum, and motor developmental delay, who was initially misdiagnosed and treated as rickets. Blood investigations and radiographic findings were crucial to guide the diagnosis. Genetic testing allows definitive molecular diagnosis leading to proper treatment and counselling.

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References

Richmond CM, Savarirayan R. Schmid Metaphyseal Chondrodysplasia. Seattle. Available from: http://www.ncbi.nlm.nih.gov/books. Accessed on 23 August 2024.

Kong L, Shi L, Wang W, Zuo R, Wang M, Kang Q. Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia. BMC Medical Genetics. 2019;20:1-9.

Alves C, Sobral MM, Ney-Oliveira F. Metaphyseal Condrodysplasia, Schmid-type, a Differential Diagnosis with Rickets. 2010;23(4):331–2.

Woelfle JV, Reichel H, Nelitz M, Brenner RE, Zabel B. Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation. J Orthop Sci. 2011;16(2):245–9.

Higuchi S, Takagi M, Shimomura S, Nishimura G, Hasegawa Y. A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1. Clin Pediatr Endocrinol. 2016;25(3):107.

Cammarata-Scalisi F, Matysiak U, Velten T, Callea M, Araque D, Willoughby CE, et al. A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1. Mol Syndromol. 2019;10(3):167–70.

Al Kaissi A, Ghachem MB, Nabil NM, Kenis V, Melchenko E, Morenko E, et al. Schmid’s Type of Metaphyseal Chondrodysplasia: Diagnosis and Management. Orthop Surg. 2018;10(3):241–6.

França M, de Faria Soares M de F, Luce ALP, Perrone E. Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis. Radiol Case Rep. 2020;15(12):2554–6.

Wu H, Wang S, Li G, Yao Y, Wang N, Sun X, et al. Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review. Mol Genet Genomic Med. 2021;9(5):1668.

Lachman RS, Rimoin DL, Spranger J. Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. Pediatr Radiol. 1988;18(2):93-102.