Publications by authors named "Maaike C E Jansweijer"
Article Synopsis
- - Meier-Gorlin syndrome (MGS) is a rare genetic disorder marked by traits like primordial dwarfism, microtia, and issues with patella development, linked to mutations in specific genes involved in DNA replication.
- - A recent study of 45 MGS patients found that growth is notably slow during pregnancy and the first year, but by adulthood, individuals average a height that is significantly below normal (about -4.5 standard deviations).
- - Growth hormone therapy has been mostly ineffective, but some individuals with low IGF1 levels experienced substantial height improvements; the study also notes that growth discrepancies affect various body structures differently, including minor genital and mammary abnormalities.
Article Synopsis
- - Meier-Gorlin syndrome (MGS) is a genetic disorder that mainly affects growth and development, marked by features like microtia (ear deformities), patellar aplasia/hypoplasia (underdeveloped knee caps), and short stature, with most cases linked to mutations in specific genes involved in cell-cycle regulation.
- - A study of 45 individuals with MGS found that 35 had mutations in one of five key genes, with 82% showing the characteristic triad of symptoms, while additional features included mammary hypoplasia and genital abnormalities.
- - Differences in genotype affect severity, with certain mutations leading to more severe outcomes, such as growth retardation; treatments like growth hormone and estrogen may
There are no guidelines available for diagnostic studies in patients with mental retardation (MR) established in an evidence-based manner. Here we report such study, based on information from original studies on the results with respect to detected significant anomalies (yield) of six major diagnostic investigations, and evaluate whether the yield differs depending on setting, MR severity, and gender. Results for cytogenetic studies showed the mean yield of chromosome aberrations in classical cytogenetics to be 9.
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