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. 2020 Jun 15;15(1):151.
doi: 10.1186/s13023-020-01418-4.

Mowat-Wilson syndrome: growth charts

Ivan Ivanovski  1   2   3 , Olivera Djuric  4   5 , Serena Broccoli  4 , Stefano Giuseppe Caraffi  1 , Patrizia Accorsi  6 , Margaret P Adam  7 , Kristina Avela  8 , Magdalena Badura-Stronka  9 , Allan Bayat  10   11 , Jill Clayton-Smith  12   13 , Isabella Cocco  6 , Duccio Maria Cordelli  14 , Goran Cuturilo  15   16 , Veronica Di Pisa  13 , Juliette Dupont Garcia  17 , Roberto Gastaldi  18 , Lucio Giordano  6 , Andrea Guala  19 , Christina Hoei-Hansen  20 , Mie Inaba  21 , Alessandro Iodice  22 , Jens Erik Klint Nielsen  23 , Vladimir Kuburovic  24   25 , Brissia Lazalde-Medina  26 , Baris Malbora  27 , Seiji Mizuno  21 , Oana Moldovan  17 , Rikke S Møller  28   29 , Petra Muschke  30 , Valeria Otelli  31 , Chiara Pantaleoni  32 , Carmelo Piscopo  33 , Maria Luisa Poch-Olive  34 , Igor Prpic  35 , Purificación Marín Reina  36 , Federico Raviglione  37 , Emilia Ricci  14 , Emanuela Scarano  38 , Graziella Simonte  1   39 , Robert Smigiel  40 , George Tanteles  41 , Luigi Tarani  42 , Aurelien Trimouille  43   44 , Elvis Terci Valera  45 , Samantha Schrier Vergano  46   47 , Karin Writzl  48 , Bert Callewaert  49   50 , Salvatore Savasta  51 , Maria Elisabeth Street  52 , Lorenzo Iughetti  53   54 , Sergio Bernasconi  55 , Paolo Giorgi Rossi  4 , Livia Garavelli  56
Affiliations

Mowat-Wilson syndrome: growth charts

Ivan Ivanovski et al. Orphanet J Rare Dis. .

Abstract

Background: 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.

Results: 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, weight and height distribution was shifted to slightly lower values than in the general population; after that, the difference increased further, with 50% of the affected children below the 5th centile of the general population. BMI distribution was similar to that of non-affected children until the age of 7 years, at which point values in MWS children increased with a less steep slope, particularly in males. Microcephaly was sometimes present at birth, but in most cases it developed gradually during infancy; many children had a small head circumference, between the 3rd and the 10th centile, rather than being truly microcephalic (at least 2 SD below the mean). Most patients were of slender build.

Conclusions: These charts contribute to the understanding of the natural history of MWS and should assist pediatricians and other caregivers in providing optimal care to MWS individuals who show problems related to physical growth. This is the first study on growth in patients with MWS.

Keywords: BMI; Body mass index; Growth charts; Head circumference; Height; Length; Mowat-Wilson syndrome; Weight; ZEB2.

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Conflict of interest statement

The authors have no conflict of interest to declare.

Figures

Fig. 1
Fig. 1
Constructed length and height growth charts for MWS patients in relation to the CDC reference charts (black) for males (blue)
Fig. 2
Fig. 2
Constructed length and height growth charts for MWS patients in relation to the CDC reference charts (black) for females (pink)
Fig. 3
Fig. 3
Constructed weight growth charts for MWS patients in relation to the CDC reference charts (black) for males (blue)
Fig. 4
Fig. 4
Constructed weight growth charts for MWS patients in relation to the CDC reference charts (black) for females (pink)
Fig. 5
Fig. 5
Constructed charts for the BMI (Kg/m2) for MWS patients in relation to the CDC reference charts (black) a for males (blue) b for females (pink)
Fig. 6
Fig. 6
Constructed charts for the head circumference (cm) for MWS patients with age 0–3 years in relation to the CDC reference charts (black) for males (blue)
Fig. 7
Fig. 7
Constructed charts for the head circumference (cm) for MWS patients with age 0–3 years in relation to the CDC reference charts (black) for females (pink)
Fig. 8
Fig. 8
Constructed charts for the head circumference (cm) for MWS patients with age 3–16 years in relation to the Tanner reference charts (black) for males (blue)
Fig. 9
Fig. 9
Constructed charts for the head circumference (cm) for MWS patients with age 3–16 years in relation to the Tanner reference charts (black) for females (pink)
See this image and copyright information in PMC

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