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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 2,865 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.

Schulz S, Volleth M, Muschke P, Wieland I, WieackerP. Appl Clin Genet. 2008;1:19–22.The Editor-in-Chief and Publisher of The Application ofClinical Genetics wish to issue an Expression of Concernfor the above published article.The original article contained a clinical image of a child,who was the focus of this case study. It came to ourattention that the article does not include a statement toconfirm that consent for this image was obtained from theparent or guardian of the patient. We attempted to contactthe authors of this article and their affiliated institution toconfirm if consent to publish was obtained but despitemultiple attempts have received no response. We wouldlike to alert readers of this issue and advise that the imageof the subject has been replaced with a grey box untilfurther notice. This decision follows the recommendationsof the Committee on Publication Ethics (COPE).The Editor and Dove Medical Press make every effort toensure publication ethics are upheld and are committed tosupporting the high standards of The Application ofClinical Genetics journal. Read the original article

Objective: Subependymal giant cell astrocytomas (SEGA) are rare, benign, and slowly growing brain tumors with male predominance, typically arising in the walls of the lateral ventricles and composed of large ganglioid astrocytes which cause increased intracranial pressure, seizures, and focal neurological[for full text, please go to the a.m. URL], 60. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), Joint Meeting mit den Benelux-Ländern und Bulgarien