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© 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.

Abstract

Background: Growth failure is commonly reported in children with PMM2-CDG. The aim of the study was to delineate the longitudinal anthropometric phenotype of patients with PMM2-CDG and attempt to find some correlations between the genotype and anthropometric phenotype. Materials and methods: Retrospective chart review of PMM2-CDG patients’ medical records was performed regarding the anthropometric measurements (head circumference, body length/height, body weight, body mass index) and PMM2 variants. Results: A negative tendency of growth evolution was observed. Patients found to be heterozygous for R141H grew slower than other patients. Body weight was correlated with body height. A negative tendency of the growth rate of head circumference was observed. Patients found to be heterozygous for R141H experienced slower growth than other patients. Conclusions: Long-term observational studies are essential to characterize the anthropometric phenotype. The body growth failure, as well as head circumference growth failure, were more severe in patients found to be heterozygous for R141H.

Details

Title
Anthropometric Phenotype of Patients with PMM2-CDG
Author
Lipiński, Patryk 1   VIAFID ORCID Logo  ; Różdżyńska-Świątkowska, Agnieszka 2 ; Bogdańska, Anna 3 ; Tylki-Szymańska, Anna 1 

 Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland; [email protected] 
 Anthropology Laboratory, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland; [email protected] 
 Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland; [email protected] 
First page
852
Publication year
2021
Publication date
2021
Publisher
MDPI AG
e-ISSN
22279067
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2584341381
Copyright
© 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.