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

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]

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 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]

The proband presents developmental delay, mental retardation, macrostomia, wide-spaced teeth, seizures, absent speech, jerky gait, and paroxysms of laughter. The cytogenetic and molecular studies showed a maternal deletion of 15q11q13. [scielo.br]

• Hypertension

  […] and may cause breathing difficulties, and nocturnal, […] dystrophy Palmoplantar keratoderma-sclerodactyly syndrome Limb-body wall complex Lopes Gorlin syndrome Currarino triad Spondylometaphyseal dysplasia with cone-rod dystrophy Brachydactyly with hypertension [paulcookson.ca]

  Incapable of sedation may predispose to hypertension, tachycardia, or coronary vasospasm, and careless myocardial ischemia. [fontanalake.com]

• Photosensitivity

  Skin Photosensitivity: sunburn-like redness, swelling and blisters on cheeks and face; may extend to involve buttocks and extremities. [dermnetnz.org]

  […] retardation - skin defects appearing within the first year of life (90%) and persisting throuhout life: atrophic dermatosis, poikiloderma, hyperpigmentation, teleangiectasia - sparse hair which may progress to partial or total alopecia; dystrophic nails - photosensitivity [atlasgeneticsoncology.org]

  Sensitivity of the skin to sun exposure (photosensitivity) has been reported in some patients, and the rash tends to affect areas that are more sun-exposed. [rarediseases.org]

• Alopecia

  […] features include: - growth retardation - skin defects appearing within the first year of life (90%) and persisting throuhout life: atrophic dermatosis, poikiloderma, hyperpigmentation, teleangiectasia - sparse hair which may progress to partial or total alopecia [atlasgeneticsoncology.org]

  Congenita With Keratosis Palmoplantaris, Atrioventricular Septal Defect, Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia, Craniometaphyseal Dysplasia, Erythrokeratodermia Variabilis,,hypoplastic Left Heart Syndrome, Hypoplastic Left [igenomix.es]

  In addition, many patients with RTS have sparse scalp hair, and some may have complete baldness (alopecia). In many cases, eyebrows, eyelashes, and body hair may also be sparse or absent. [rarediseases.org]

• Hyperpigmentation

  Note clinical expression highly variable Phenotype and clinics main features include: - growth retardation - skin defects appearing within the first year of life (90%) and persisting throuhout life: atrophic dermatosis, poikiloderma, hyperpigmentation [atlasgeneticsoncology.org]

  […] rash known as poikiloderma, characterized by telangiectases (prominent, small, spider-like blood vessels); small spots of atrophy (skin tissue degeneration or thinning); and areas of abnormal skin pigmentation alternating between increased pigment (hyperpigmentation [rarediseases.org]

• Sparse Eyebrows

  The boy had sparse hair, eczema of the skin, and facial dysmorphism with a high forehead, arched and medially sparse eyebrows, long eyelashes, wide and downslanting palpebral fissures, wrinkled skin below the eyes, flat and sagging malar regions, a short [karger.com]

• Hyperkeratosis

  One of the other skin manifestations of RTS that tends to be more prominent in adulthood is a condition called hyperkeratosis, where certain areas such as the palms and soles, knees and sometimes around the fingers or toes, become thickened and overgrown [rarediseases.org]

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]

[…] orphan disease: management of a case of Nicolaides-Baraitser syndrome undergoing cleft palate surgery. 62 Goehring M...Messroghli L 34039274 2021 27 Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment [malacards.org]

PMID: 2455020 Prognosis Parisi MA Am J Med Genet C Semin Med Genet 2009 Nov 15;151C(4):326-40. doi: 10.1002/ajmg.c.30229. [ncbi.nlm.nih.gov]

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

[from SNOMEDCT_US] Etiology Torvik A, Torp S, Kase BF, Ek J, Skjeldal O, Stokke O J Neurol Sci 1988 May;85(1):39-53. doi: 10.1016/0022-510x(88)90034-2. [ncbi.nlm.nih.gov]

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]

BT Facial Dysostoses: Etiology, Pathogenesis and Management. Am J Med Genet C Semin Med Genet. 2013 November; 163(4): 10.1002/ajmg.c.31375. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles /PMC3870197/ [medigraphic.com]

[…] survey of autism: Recurrence risk estimates and genetic counseling Ritvo, ER; Jorde, LB; Mason‐Brothers, A; Freeman, BJ; Pingree, C; Jones, MB; McMahon, WM; Petersen, PB; Jenson, WR; Mo, A The UCLA‐University of Utah epidemiologic survey of autism: The etiologic [deepdyve.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]

I: Clinical and epidemiological aspects Nordin, V; Gillberg, C Comparison of the family history method to direct interview. [deepdyve.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]

2022 22 Accelerated epigenetic age and shortened telomere length based on DNA methylation in Nicolaides-Baraitser syndrome. 62 Shinko Y...Hishimoto A 35092358 2022 23 Living birth following preimplantation genetic testing for monogenic disorders to prevent [malacards.org]

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]