Mowat-Wilson syndrome: growth charts.

Orphanet Journal of Rare Diseases
Ivan IvanovskiLivia Garavelli

Abstract

Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist. The aim of this study is to provide up-to-date growth charts specific for infants and children with MWS. Charts for males and females aged from 0 to 16 years were generated using a total of 2865 measurements from 99 MWS patients of different ancestries. All data were collected through extensive collaborations with the Italian MWS association (AIMW) and the MWS Foundation. The GAMLSS package for the R statistical computing software was used to model the growth charts. Height, weight, body mass index (BMI) and head circumference were compared to those from standard international growth charts for healthy children. In newborns, weight and length were distributed as in the general population, while head circumference was slightly smaller, with an average below the 30th centile. Up to the age of 7 years, wei...Continue Reading

References

Jul 1, 1992·Statistics in Medicine·T J Cole, P J Green
Aug 1, 1986·Clinics in Endocrinology and Metabolism·J M Tanner
Jan 1, 1996·Hormone Research·R C HauspieC Susanne
Dec 10, 1999·American Journal of Medical Genetics·M ClementiR Tenconi
Oct 24, 2000·Statistics in Medicine·P Royston, E M Wright
Jun 5, 2003·American Journal of Medical Genetics. Part a·Meredith WilsonMichel Goossens
Aug 2, 2005·European Journal of Medical Genetics·Christiane ZweierAnita Rauch
Nov 15, 2006·American Journal of Medical Genetics. Part a·Margaret P AdamLouanne Hudgins
Feb 16, 2007·Archives of Disease in Childhood·N D T MartinM A Preece
Oct 26, 2007·Orphanet Journal of Rare Diseases·Livia Garavelli, Paola Cerruti Mainardi
Apr 17, 2008·American Journal of Medical Genetics. Part a·Adriana M MontañoTadao Orii
Jul 6, 2010·Journal of Pediatric Gastroenterology and Nutrition·Enrico BertinoSilvano Milani
Sep 11, 2010·European Journal of Pediatrics·Sabine VerbeekFlorens G A Versteegh
Oct 14, 2010·Annals of Human Biology·Angelika Schaffrath RosarioHannelore Neuhauser
Aug 14, 2012·American Journal of Medical Genetics. Part a·Daniel C TarquinioLynne M Bird
Feb 5, 2013·Statistical Methods in Medical Research·Robert A Rigby, Dimitrios M Stasinopoulos
Mar 8, 2013·Human Molecular Genetics·Jamal GhoumidIrina Giurgea
Jul 6, 2014·American Journal of Medical Genetics. Part a·Lex BeetsRaoul C Hennekam
Dec 10, 2014·Pediatrics·Merlin G ButlerDaniel J Driscoll
Oct 28, 2015·Pediatrics·Babette S ZemelPhoebe Thorpe
Jan 5, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ivan IvanovskiLivia Garavelli
May 3, 2019·Orphanet Journal of Rare Diseases·Nicole M MuscholSandra R Breyer

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Citations

May 14, 2021·Journal of Applied Genetics·Aleksandra JakubiakRobert Śmigiel
Jul 3, 2021·Genes·Duccio Maria CordelliEmilia Ricci

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Software Mentioned

R
Generalized Models for Location , Scale and Shape ( GAMLSS )
Excel

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