tag:blogger.com,1999:blog-2186593343917545414.post750671174083817124..comments2024-03-10T12:29:30.004-07:00Comments on pediatric neurology: Baraitser-Winter cerebrofrontofacial syndromeGalen Breningstall, MDhttp://www.blogger.com/profile/07170864203251456228noreply@blogger.comBlogger5125tag:blogger.com,1999:blog-2186593343917545414.post-24155474893399707022020-05-09T22:32:47.684-07:002020-05-09T22:32:47.684-07:00I’m here to testify about what DR. ISIBOR did for ...I’m here to testify about what DR. ISIBOR did for me. I have been suffering from (GENITAL HERPES VIRUS) disease for the past 3 years and had constant pain and inching, especially in my private part. During the first year, I had faith in God that i would be cured someday.This disease started circulating all over my body and I have been taking treatment from my doctor, few weeks ago I came across a testimony of Rose Smith on the internet testifying about a Man called DR. ISIBOR on how he cured her from 7 years HSV 2. 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ISIBOR for help via email} drisiborspellhome@gmail.com or call +2348107855231Valerie Lancasterhttps://www.blogger.com/profile/12544337503329914398noreply@blogger.comtag:blogger.com,1999:blog-2186593343917545414.post-618639536198017322016-06-20T10:37:23.795-07:002016-06-20T10:37:23.795-07:00Rivière JB, van Bon BW, Hoischen A, Kholmanskikh S...Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BB, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26;44(4):440-4, S1-2.<br /><br />Abstract<br />Brain malformations are individually rare but collectively common causes of developmental disabilities. Many forms of malformation occur sporadically and are associated with reduced reproductive fitness, pointing to a causative role for de novo mutations. Here, we report a study of Baraitser-Winter syndrome, a well-defined disorder characterized by distinct craniofacial features, ocular colobomata and neuronal migration defect. Using whole-exome sequencing of three proband-parent trios, we identified de novo missense changes in the cytoplasmic actin-encoding genes ACTB and ACTG1 in one and two probands, respectively. Sequencing of both genes in 15 additional affected individuals identified disease-causing mutations in all probands, including two recurrent de novo alterations (ACTB, encoding p.Arg196His, and ACTG1, encoding p.Ser155Phe). Our results confirm that trio-based exome sequencing is a powerful approach to discover genes causing sporadic developmental disorders, emphasize the overlapping roles of cytoplasmic actin proteins in development and suggest that Baraitser-Winter syndrome is the predominant phenotype associated with mutation of these two genes.Galen Breningstall, MDhttps://www.blogger.com/profile/07170864203251456228noreply@blogger.comtag:blogger.com,1999:blog-2186593343917545414.post-28298130585910246282016-06-20T10:33:23.345-07:002016-06-20T10:33:23.345-07:00Shiihara T, Maruyama K, Yamada Y, Nishimura A, Mat...Shiihara T, Maruyama K, Yamada Y, Nishimura A, Matsumoto N, Kato M, Sakazume S. A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia. Brain Dev. 2010 Jun;32(6):502-5.<br /><br />Abstract<br />Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology. Patients suffering from this syndrome have been also found to show brain anomalies such as pachygyria, subcortical-band heterotopia (SBH), and hippocampal malformations; therefore, these anomalies have been included in the phenotypic spectrum of this syndrome. We report the case of a Japanese boy suffering from BaWS; the patient's brain magnetic resonance imaging scan revealed pachygyria, SBH, and periventricular heterotopia. However, the results of the genome-wide array comparative genomic hybridization did not reveal any chromosomal rearrangements.Galen Breningstall, MDhttps://www.blogger.com/profile/07170864203251456228noreply@blogger.comtag:blogger.com,1999:blog-2186593343917545414.post-39299730468272966822016-06-20T10:31:30.401-07:002016-06-20T10:31:30.401-07:00Rossi M, Guerrini R, Dobyns WB, Andria G, Winter R...Rossi M, Guerrini R, Dobyns WB, Andria G, Winter RM. Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. Neuropediatrics. 2003 Dec;34(6):287-92.<br /><br />Abstract<br />Baraitser-Winter syndrome is a rare autosomal recessive disorder characterized by developmental delay, dysmorphic features, and multiple malformations also involving the brain. We report a further case and provide updated information about an unrelated girl reported in the original paper by Baraitser and Winter. Both of them presented with pachygyria and the latter case was recently found to have subcortical band heterotopia on high resolution brain MRI imaging. These two patients and a review of the previously reported cases indicate that a specific pattern of brain anomalies falling in the agyria-pachygyria-band spectrum is associated with this dysmorphic syndrome, which may be considered another example of syndromic neuronal migration defect.Galen Breningstall, MDhttps://www.blogger.com/profile/07170864203251456228noreply@blogger.comtag:blogger.com,1999:blog-2186593343917545414.post-45927999916096371152016-06-20T10:29:44.663-07:002016-06-20T10:29:44.663-07:00Kemerley A, Sloan C, Pfeifer W, Smith R, Drack A. ...Kemerley A, Sloan C, Pfeifer W, Smith R, Drack A. A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations. Ophthalmic Genet. 2016 Apr 20:1-5. <br /><br />Abstract<br />Baraitser-Winter syndrome (cerebrofrontofacial syndrome, type 3) is a rare developmental disorder typified by hypertelorism, ptosis, high-arched eyebrows, ocular coloboma, and brain malformations. Other common manifestations include hearing loss, short stature, seizures, intellectual impairment, muscle dysfunction, and abnormalities of the kidney and urinary system. This syndrome is caused by missense mutations in the genes ACTB or ACTG1, both of which encode for cytoplasmic actin proteins crucial for proper development of many organs in the human body. There are no reports of familial transmission; all reported cases have been new mutations. However, different mutations in ACTG1 have been reported to cause isolated non-syndromic hearing loss, with many reported cases of autosomal dominant (AD) inheritance. We have identified a three-generation pedigree segregating a novel mutation in the ACTG1 gene that causes Baraitser-Winter Syndrome with extremely variable expressivity, leading to an initial diagnosis of isolated AD hearing loss in two members. Subtle optic nerve signs not previously reported in this syndrome are also documented in one patient.Galen Breningstall, MDhttps://www.blogger.com/profile/07170864203251456228noreply@blogger.com