So, in the case presented, we resented the use of any muscle relaxant, and anesthesia was deepened by inhalation anesthesia. [hindawi.com]

Classification level: Disorder Synonym(s): Thompson-Baraitser syndrome Prevalence: <1 / 1 000 000 Inheritance: - Age of onset: Neonatal, Infancy ICD-10: - OMIM: 213010 UMLS: C2931226 MeSH: - GARD: 5177 MedDRA: - The documents contained in this web site are presented [orpha.net]

We describe a newborn girl presenting with the same pattern of congenital anomalies as the patients of the family originally described by Sorsby (OMIM 120400). [semanticscholar.org]

We present 11 new cases to show the evolution of the full phenotype from birth and to confirm autosomal recessive inheritance. We emphasise morbidity secondary to respiratory impairment and that conductive deafness may be part of the syndrome. [ncbi.nlm.nih.gov]

AGRADECIMENTOS O presente trabalho foi realizado com suporte financeiro da FAPESP e do CNPq. REFERENCIAS 1. Angelman H. "Puppet" children: a report on three cases. Develop Med Child Neurol 1965;7:681 -688. [ Links ] 2. [scielo.br]

• Pain

  Personalized pediatric anesthesia and pain management: problem-based review. [paulcookson.ca]

  Syndromes Fainting or feeling light-headed Neurosyphilis Chest pain, chills, fever, shortness of breath, or other symptoms of pneumonia Urinalysis may show protein in the urine or red blood cells in the urine Rash over the entire body that often contains [fontanalake.com]

• Tachypnea

  Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987. [orpha.net]

• Constipation

  Kroll}, journal={Clinical Genetics}, year={1985}, volume={27} } The X‐linked FG syndrome is characterised by mental retardation, congenital hypotonia and constipation (which may both be severe), structural anal anomalies and relative macrocephaly in some [semanticscholar.org]

  Search for more papers by this author First published: June 1985 Citations: 28 Abstract The X-linked FG syndrome is characterised by mental retardation, congenital hypotonia and constipation (which may both be severe), structural anal anomalies and relative [onlinelibrary.wiley.com]

  Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome. J Med Genet. 1983 Apr;20(2):97–99. [PMC free article] [PubMed] [Google Scholar] Neri G, Blumberg B, Miles PV, Opitz JM. [ncbi.nlm.nih.gov]

  Constipation was observed for a certain period of time. The patient was last investigated at 8 years and 8 months and had mild short stature with a body height of 124.5 cm (3rd centile). [karger.com]

• High Arched Palate

  arched palate, and micrognathia). [orpha.net]

• Liver Fibrosis

  fibrosis, kidney cysts and mental retardation. [checkorphan.org]

• Visual Impairment

  Surgical removal of opacified lenses can be performed to prevent serious visual impairment or loss. [rarediseases.org]

  impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505 9 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322 10 hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0001276 11 abnormality of movement 58 31 frequent (33%) Frequent (79 [malacards.org]

• Visual Impairment

  Surgical removal of opacified lenses can be performed to prevent serious visual impairment or loss. [rarediseases.org]

  impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505 9 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322 10 hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0001276 11 abnormality of movement 58 31 frequent (33%) Frequent (79 [malacards.org]

• Macrocephaly

  Kroll}, journal={Clinical Genetics}, year={1985}, volume={27} } The X‐linked FG syndrome is characterised by mental retardation, congenital hypotonia and constipation (which may both be severe), structural anal anomalies and relative macrocephaly in some [semanticscholar.org]

  […] for more papers by this author First published: June 1985 Citations: 28 Abstract The X-linked FG syndrome is characterised by mental retardation, congenital hypotonia and constipation (which may both be severe), structural anal anomalies and relative macrocephaly [onlinelibrary.wiley.com]

Skip to content Home About Us Team Log In News Videos Treatments Clinical Trials Access Programs Diseases Events Networks All News People Treatment Research Finance All Access Programs Main Menu Subscribe for Free Newsletter Email * Type * * Required [checkorphan.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Standard Therapies The treatment of Rothmund-Thomson syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Treatment of osteosarcoma in Rothmund–Thomson syndrome is similar to in patients without the syndrome. [dermnetnz.org]

Treatment only protection against sunlight is possible by means of sunscreens with both UVA and UVB protection; dermatologic therapies; surgical correction of skeletal malformations and cataracts; regular and careful work-up of signs and symptoms of both [atlasgeneticsoncology.org]

“, North Carolina: When her son, Gene, was a few days old, Cassandra Locklear said doctors labeled him with a foreboding prognosis: ". [paulcookson.ca]

In this case, we presented the anesthesic management of a 2-year-old child undergoing frontal sling operation for ptosis and amblyopia etiology exploration. 1. [hindawi.com]

The etiology of perioperative neurologic complications is believed to be predominantly anticipated to emboli (similar to, atheroma, other particulate matter) and not to hypoperfusion in susceptible patients. [fontanalake.com]

Neoplastic risk patients have an enhanced risk of bone cancer, specifically osteosarcoma (30 out of 300 - 10%- in the literature) and nonmelanoma skin cancers ( squamous cell carcinoma, basal cell carcinoma) with an estimated prevalence around 5% Etiology [atlasgeneticsoncology.org]

Loss of BRM expression in different tumor cell lines might indicate that silencing of the SWI/SNF ATPases is involved in the etiology of various tumors [Reisman et al., 2009]. [karger.com]

An exome sequencing study of 10 patients with NCBRS established the etiological role of SMARCA2 missense variants in the disorder [17]. [bmcmedgenomics.biomedcentral.com]

Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 57 Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome 58 Thompson-Baraitser Syndrome 58 Thompson Baraitser Syndrome 70 Characteristics: Orphanet epidemiological [malacards.org]

Nowakowska, Jakub Klapecki & Ewa Obersztyn Clinical and Molecular Genetics Unit, Institute of Child Health, London, UK Sérgio B Sousa Serviço de Genética Médica, Hospital Pediátrico de Coimbra, Coimbra, Portugal Sérgio B Sousa Department of Clinical Epidemiology [nature.com]

Bump hunting to identify differentially methylated regions in epigenetic epidemiology studies. Int J Epidemiol. 2012;41(1):200–9. PubMed PubMed Central Article Google Scholar 37. Li D, Xie Z, Pape ML, Dye T. [bmcmedgenomics.biomedcentral.com]

GO analysis on the CpG sites comprise the NCBRS-SMARCA2 signature identified genes related to NCBRS pathophysiology. [bmcmedgenomics.biomedcentral.com]

A shortage of the RECQL4 protein may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time. [medlineplus.gov]

Advanced corticosteroid eat in long-bone break patients may be profitable in preventing the syndrome. Decreased arterial oxygen tension is the most consistent weird laboratory value. [fontanalake.com]

Surgical removal of opacified lenses can be performed to prevent serious visual impairment or loss. [rarediseases.org]

Hospital of Philadelphia, Pennsylvania, USA; North York General Hospital, Toronto, Ontario; Primary Children’s Hospital, Salt Lake City, Utah; Children’s Mercy Hospital, Kansas City, Kansas; Hôpitaux Universitaires de Strasbourg, Strasbourg, France; and Prevention [bmcmedgenomics.biomedcentral.com]