Publications by authors named "Alaa Y Edrees"
This study was aimed at assessing the attitude of health care professionals in Jeddah city toward prenatal diagnosis (PND) and termination of pregnancy (TOP). A cross-sectional study was conducted, and the participants completed a self-administered questionnaire. Approximately 82% of participants showed a consistent trend of accepting PND when appropriate, and 47.
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- - 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
Neurologic manifestations in osteopetrosis are usually secondary to sclerosis of the skull bones. However, a rare neuropathic subtype of osteopetrosis exists that resembles neurodegenerative storage disorders. Unlike other forms of osteopetrosis, this latter form does not respond to hematopoietic stem cell transplantation.
View Article and Find Full Text PDFMeier-Gorlin syndrome (ear, patella and short-stature syndrome) is an autosomal recessive primordial dwarfism syndrome characterized by absent or hypoplastic patellae and markedly small ears¹⁻³. Both pre- and post-natal growth are impaired in this disorder, and although microcephaly is often evident, intellect is usually normal in this syndrome. We report here that individuals with this disorder show marked locus heterogeneity, and we identify mutations in five separate genes: ORC1, ORC4, ORC6, CDT1 and CDC6.
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