Literature DB >> 26522251

Can Macrosomia or Large for Gestational Age Be Predictive of Mucopolysaccharidosis Type I, II and VI?

Agnieszka Różdżyńska-Świątkowska1, Agnieszka Jurecka2, Zbigniew Żuber3, Anna Tylki-Szymańska4.   

Abstract

BACKGROUND: The objective of the study was to compare mean values for birth body length and weight between patients with mucopolysaccharidosis (MPS) and the general population.
METHODS: A retrospective analysis of birth anthropometric data was performed for patients (n = 103) with MPS I, II, and VI. Two-tailed t tests were used to compare mean values for body length and weight at birth between patients with MPS and the general population.
RESULTS: Mean values for birth body length and weight for all studied groups were greater than in the general population. For body length the differences were statistically significant. When considered individually, 53% of patients were large for gestational age (LGA) and 30% were macrosomic. The highest percentage of LGA was observed in MPS II males and MPS VI females (55% and 56%, respectively), while the highest percentage of macrosomia was observed in MPS VI males (36%).
CONCLUSION: At the time of birth, MPS patients were larger than those in the general population. High birth weight and/or LGA can be suggestive of MPS disease and should raise suspicion aiding early disease recognition.
Copyright © 2015. Published by Elsevier B.V.

Entities:  

Keywords:  anthropometric features; large for gestational age; macrosomia; mucopolysaccharidosis; overgrowth

Mesh:

Year:  2015        PMID: 26522251     DOI: 10.1016/j.pedneo.2015.04.015

Source DB:  PubMed          Journal:  Pediatr Neonatol        ISSN: 1875-9572            Impact factor:   2.083


  8 in total

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Journal:  J Appl Genet       Date:  2022-05-13       Impact factor: 2.653

Review 2.  Failures of Endochondral Ossification in the Mucopolysaccharidoses.

Authors:  Zhirui Jiang; Sharon Byers; Margret L Casal; Lachlan J Smith
Journal:  Curr Osteoporos Rep       Date:  2020-10-16       Impact factor: 5.096

3.  Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion.

Authors:  Nathalie Guffon; Pierre Journeau; Anaïs Brassier; Juliane Leger; Bertrand Chevallier
Journal:  Eur J Pediatr       Date:  2019-02-11       Impact factor: 3.183

4.  Comparison of growth dynamics in different types of MPS: an attempt to explain the causes.

Authors:  Agnieszka Różdżyńska-Świątkowska; Anna Zielińska; Anna Tylki-Szymańska
Journal:  Orphanet J Rare Dis       Date:  2022-09-05       Impact factor: 4.303

5.  Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.

Authors:  Hsiang-Yu Lin; Chih-Kuang Chuang; Yu-Hsiu Huang; Ru-Yi Tu; Fang-Ju Lin; Shio Jean Lin; Pao Chin Chiu; Dau-Ming Niu; Fuu-Jen Tsai; Wuh-Liang Hwu; Yin-Hsiu Chien; Ju-Li Lin; Yen-Yin Chou; Wen-Hui Tsai; Tung-Ming Chang; Shuan-Pei Lin
Journal:  Orphanet J Rare Dis       Date:  2016-06-27       Impact factor: 4.123

6.  Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).

Authors:  Olaf Bodamer; Maurizio Scarpa; Christina Hung; Tom Pulles; Roberto Giugliani
Journal:  Mol Genet Metab Rep       Date:  2017-05-03

7.  Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature.

Authors:  Agnieszka Różdżyńska-Świątkowska; Krzysztof Szklanny; Jolanta Marucha; Anna Tylki-Szymańska
Journal:  Diagnostics (Basel)       Date:  2020-02-20

Review 8.  Mucopolysaccharidosis Type I.

Authors:  Francyne Kubaski; Fabiano de Oliveira Poswar; Kristiane Michelin-Tirelli; Ursula da Silveira Matte; Dafne D Horovitz; Anneliese Lopes Barth; Guilherme Baldo; Filippo Vairo; Roberto Giugliani
Journal:  Diagnostics (Basel)       Date:  2020-03-16
  8 in total

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