Mowat-Wilson syndrome: growth charts

被引：14

作者：

Ivanovski, Ivan ^{[1
,2
,3
]}

Djuric, Olivera ^{[4
,5
]}

Broccoli, Serena ^{[4
]}

Caraffi, Stefano Giuseppe ^{[1
]}

Accorsi, Patrizia ^{[6
]}

Adam, Margaret P. ^{[7
]}

Avela, Kristina ^{[8
]}

Badura-Stronka, Magdalena ^{[9
]}

Bayat, Allan ^{[10
,11
]}

Clayton-Smith, Jill ^{[12
,13
]}

Cocco, Isabella ^{[6
]}

Cordelli, Duccio Maria ^{[14
]}

Cuturilo, Goran ^{[15
,16
]}

Di Pisa, Veronica ^{[13
]}

Garcia, Juliette Dupont ^{[17
]}

Gastaldi, Roberto ^{[18
]}

Giordano, Lucio ^{[6
]}

Guala, Andrea ^{[19
]}

Hoei-Hansen, Christina ^{[20
]}

Inaba, Mie ^{[21
]}

Iodice, Alessandro ^{[22
]}

Nielsen, Jens Erik Klint ^{[23
]}

Kuburovic, Vladimir ^{[24
,25
]}

Lazalde-Medina, Brissia ^{[26
]}

Malbora, Baris ^{[27
]}

Mizuno, Seiji ^{[21
]}

Moldovan, Oana ^{[17
]}

Moller, Rikke S. ^{[10
,28
]}

Muschke, Petra ^{[29
]}

Otelli, Valeria ^{[30
]}

Pantaleoni, Chiara ^{[31
]}

Piscopo, Carmelo ^{[32
]}

Poch-Olive, Maria Luisa ^{[33
]}

Prpic, Igor ^{[34
]}

Reina, Purificacion Marin ^{[35
]}

Raviglione, Federico ^{[36
]}

Ricci, Emilia ^{[14
]}

Scarano, Emanuela ^{[37
]}

Simonte, Graziella ^{[1
,38
]}

Smigiel, Robert ^{[39
]}

Tanteles, George ^{[40
]}

Tarani, Luigi ^{[41
]}

Trimouille, Aurelien ^{[42
,43
]}

Valera, Elvis Terci ^{[44
]}

Vergano, Samantha Schrier ^{[45
,46
]}

Writzl, Karin ^{[47
]}

Callewaert, Bert ^{[48
,49
]}

Savasta, Salvatore ^{[50
]}

Street, Maria Elisabeth ^{[51
]}

Iughetti, Lorenzo ^{[52
,53
]}

机构：

[1] IRCCS Reggio Emilia, Med Genet Unit, Dept Mother & Child, Azienda Unita Sanit Locale, I-42123 Reggio Emilia, Italy

[2] Univ Modena & Reggio Emilia, Dept Surg Med Dent & Morphol Sci Interest Transpl, Modena, Italy

[3] Univ Zurich, Inst Med Genet, Zurich, Switzerland

[4] IRCCS Reggio Emilia, Azienda Unita Sanit Locale, Epidemiol Unit, Reggio Emilia, Italy

[5] Univ Modena & Reggio Emilia, Dept Biomed Metab & Neural Sci, Sect Publ Hlth, Ctr Environm Nutr & Genet Epidemiol CREAGEN, Modena, Italy

[6] Spedali Civili Brescia, Neuropsychiat Dept, Brescia, Italy

[7] Univ Washington, Sch Med, Div Genet Med, Seattle, WA USA

[8] Helsinki Univ Hosp, Dept Clin Genet, Helsinki, Finland

[9] Poznan Univ Med Sci, Chair & Dept Med Genet, Poznan, Poland

[10] Univ Southern Denmark, Inst Reg Hlth Serv, Odense, Denmark

[11] Danish Epilepsy Ctr Dianalund, Dept Epilepsy Genet & Personalized Med, Dianalund, Denmark

[12] Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester, Lancs, England

[13] Manchester Univ NHS Fdn Trust, Manchester Ctr Genom Med, St Marys Hosp, Hlth Innovat Manchester, Manchester, Lancs, England

[14] Univ Bologna, St Orsola Malpighi Hosp, Pediat Dept, Child Neurol & Psychiat Unit, Bologna, Italy

[15] Univ Belgrade, Fac Med, Belgrade, Serbia

[16] Univ Childrens Hosp, Dept Med Genet, Belgrade, Serbia

[17] Hosp Santa Maria, Serv Genet Med, Ctr Hosp Lisboa Norte, Dept Pediat,Ctr Acad Med Lisboa, Lisbon, Portugal

[18] Ist Giannina Gaslini, UOC Clin Pediat, Genoa, Italy

[19] Osped Castelli, SOC Pediat, Verbania, Italy

[20] Copenhagen Univ Hosp, Rigshosp, Dept Paediat, Copenhagen, Denmark

[21] Cent Hosp Kasugai, Aichi Human Serv Ctr, Dept Pediat, Kasugai, Aichi, Japan

[22] IRCCS Reggio Emilia, Azienda Unita Sanit Locale, Child Neurol & Psychiat Unit, Reggio Emilia, Italy

[23] Zealand Univ Hosp Roskilde, Dept Pediat, Roskilde, Denmark

[24] Mother & Child Hlth Care Inst, Dept Cardiol, Belgrade, Serbia

[25] Barnklin, Skanes Univ Sjukhus, Lund, Sweden

[26] Mexican Inst Social Secur, Biomed Res Unit, Durango, Mexico

[27] Tepecik Training & Res Hosp, Dept Pediat Hematol & Oncol, Izmir, Turkey

[28] Danish Epilepsy Ctr, Dianalund, Denmark

[29] Univ Hosp Magdeburg, Inst Human Genet, Magdeburg, Germany

[30] ATS Bergamo, Bergamo, Italy

[31] Fdn IRCCS Ist Neurol Carlo Besta, Dev Neurol Unit, Milan, Italy

[32] AORN A Cardarelli, UOSC Med Genet, Naples, Italy

[33] Hosp San Pedro, Dept Pediat, Logrono, Spain

[34] Univ Rijeka, Univ Hosp Rijeka, Med Fac, Dept Pediat,Child Neurol Serv, Rijeka, Croatia

[35] Univ & Polytech Hosp La Fe, Dismorphol & Reprod Genet, Neonatal Res Grp, Hlth Res Inst Hosp La Fe, Valencia, Spain

[36] UONPIA ASST Rhodense, Child Neuropsychiatty Unit, Milan, Italy

[37] Univ Bologna, St Orsola Malpighi Hosp, Dept Med & Surg Sci, Unit Pediat, Bologna, Italy

[38] Univ Catania, Vittorio Emanuele Hosp, Dept Pediat & Med Sci, Catania, Italy

[39] Wroclaw Med Univ, Dept Pediat, Div Pediat Propedeut & Rare Disorders, Wroclaw, Poland

[40] Cyprus Inst Neurol & Genet, Clin Genet Clin, Nicosia, Cyprus

[41] Univ Roma La Sapienza, Dept Pediat, Rome, Italy

[42] CHU Bordeaux, Serv Genet Med, Bordeaux, France

[43] Univ Bordeaux, INSERM U1211, Bordeaux, France

[44] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Pediat, Sao Paulo, Brazil

[45] Eastern Virginia Med Sch, Dept Pediat, Norfolk, VA 23501 USA

[46] Childrens Hosp Kings Daughters, Div Med Genet & Metab, Norfolk, VA USA

[47] Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia

[48] Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium

[49] Univ Ghent, Dept Biomol Med, Ghent, Belgium

[50] Univ Pavia, IRCCS Policlin S Matteo Fdn, Pediat Clin, Pavia, Italy

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2020年 / 15卷 / 01期

关键词：

Mowat-Wilson syndrome; ZEB2; Growth charts; Weight; Length; Height; Head circumference; Body mass index; BMI; HEAD CIRCUMFERENCE; FEATURES; CHILDREN; INDIVIDUALS; DELINEATION; STATISTICS; MUTATIONS; DISEASE; HEIGHT; AGE;

D O I：

10.1186/s13023-020-01418-4

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of theZEB2gene. 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.

引用

页数：12

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