Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Jan 21, 2020 cantu syndrome was first recognized in by doctor cantu, working in. Congenital heart disease children with cantu syndrome may be born with a structural heart problem and by far the most common is patent ductus arteriosus pda. Cantu wrote that appellant should be excused from work from november 1 to 3, 20 because she had a. Ruth cantu, bsn, rn, aacc program manager, acc accreditation services summary the detection of a rise andor fall of cardiac troponin plays a key role in identification of patients suspected of having an acute coronary syndrome acs and earlier diagnosis of myocardial infarction. Pdf cantu syndrome is a rare congenital disorder characterized by hypertrichosis. The gene is located on short arm of chromosome 12 12p12. We describe a newborn with features of cantu syndrome. Bibliographies of retrieved articles were examined for relevant articles. Direct url citations appear in the printed text and are provided in the html and pdf versions of. Get a heads up on concussion in sports policies information for parents, coaches, and.
Jun 08, 2012 cantu syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Recent genetic analysis has revealed that the majority of cs patients carry a missense mutation in abcc9, which codes for the sulfonylurea receptor sur2. Cantu syndrome is a rare genetic condition which has been reported in the medical literature in less than 50 people. Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal. A concussion is a type of traumatic brain injury that can have a serious effect on a young, developing brain. Differential mechanisms of cantu syndromeassociated gain of. Mutations in another gene has also been associated with this disorder. Possible treatments may include shaving and in teenagers and adults use of depilatories or laser hair removal. An overview of concussion consensus statements since 2000. Cantu syndrome is caused by mutations in abcc9 sciencedirect. We report a case with the typical features of cantu syndrome after taking consent. Mutation of kcnj8 in a patient with cantu syndrome with. Table of contents, volume 182a, number 5, may 2020. The cantu syndrome clinic, now entering its fourth year, brings clinicians, patients, and families together in a clinical setting to further evaluate and research the clinical features associated with cantu syndrome while building a social environment for all those involved to interact and connect with one another.
Note the coarse facial appearance, including a broad nasal bridge, a short nose, a long philtrum, a wide mouth, and full lips. United states department of labor employees compensation appeals board. An independent licensee of the blue cross and blue shield association. People with cantu syndrome have thick scalp hair that extends onto the forehead and grows down. Individuals with this syndrome described by marres and cremers 2 have ear pits, lopears, congenital hearing impairment, and commissural lip pits.
A novel frameshift mutation in sox10 causes waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of hirschsprung disease elizabeth a. Jci glibenclamide reverses cardiovascular abnormalities of. Postconcussion syndrome pcs is a complex disorder in which concussion symptoms last for weeks, months and, in rare cases, years. It is an extremely rare genetic disease and only about 50 cases have been reported worldwide 2. Bauer 1 paolo calligari 2 francesca clementina radio 3 viviana caputo 4 maria lisa dentici 3 nadia falah 5 frances high 6 francesca pantaleoni 3 sabina barresi 3 andrea ciolfi 3 simone pizzi 3 alessandro bruselles. In decisions, under file number xxxxxx154, dated july 2 and august 8, 2007, owcp denied appellants claims for compensation for april 11, 2007 and continuing.
Our daughters diagnosis of cantu syndrome at 12 months has most certainly enabled us to have a greater understanding of the things which make her unique and has helped us to better support her as she grows up. Kathy grange for kathy grange, md, every day is a professional adventure, solving medical mysteries and pursuing diagnoses of rare diseases. Alogliptin after acute coronary syndrome in patients with type 2 diabetes. Central nervous system reactions to histamine2 receptor. For language access assistance, contact the ncats public information officer. Autosomal dominant inheritance in cantu syndrome congenital. If you have not installed and configured the adobe acrobat reader on your system. Please visit the project page for details or ask questions at wikipedia talk. Epidemiology to date, fewer than 30 cases have been reported. It is associated with a wide array of phenotypic characteristics, the most common being hypertrichosis, cardiac and skeletal anomalies, and distinctive coarse facial features. This pilot study aimed to examine the efficacy of neck paraspinal muscles electrical stimulation es in conjunction with physical therapy pt on reducing the severity of post concussive symptoms. Cantu syndrome the source washington university in st.
Cantu concussion center, emerson hospital, concord, ma, usa 3center for rehabilitative and sports therapies, emerson hospital, concord, ma, usa 4department of neurosurgery and neurology, boston university school of medicine, boston, ma, usa abstract postconcussion syndrome pcs is a complex disorder with various symptoms. Mcalister cantu syndrome cs was described arteriosus, pulmonary hypertension, received. Abcc9 related intellectual disability myopathy syndrome is a. Louis childrens hospital, grange and singh, professor in the division of pediatric cardiology, were treating a family with multiple cases of cantu syndrome. George capone of the kennedy krieger institutes down syndrome clinic, it is crucial to build and maintain a social outlet for teens and adults with down syndrome that not only fosters independence, but which also includes peers with down syndrome. Cantu syndrome a case report article pdf available in current pediatric research 161. Aortic and pulmonary artery dilatation in cantu syndrome.
Igf1 269 gl increased from 51 gl pretreatment with persistent mildly. The prolonged symptoms may indicate postconcussion syndrome pcs. Nov 12, 2019 cantu syndrome is a rare genetic syndrome which arises due to missense mutations in abcc9 or kcnj8, resulting in a gainoffunction of the widely expressed k atp channel. Supplementary appendix this appendix has been provided by the authors to give readers additional information about their work.
This is a pdf file of an unedited manuscript that has been accepted for publication. Ginat dt, lee sk, neuroimaging manifestations of phace syndrome, pediatric neurology 2015, doi. Tator c, starkes j, dolansky g, quet j, michaud j, vassilyadi m. We report a case with the typical features of cantu syndrome.
Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Jun 08, 2012 despite the identification of cantu syndrome as a distinct clinical entity. This system is a better alternative to manual reporting as its goxpa. The essentials of concussion management fall into four categories, education, baseline testing, injury assessment and injury management. Using an exomesequencing approach applied to one probandparent trio and three unrelated single cases, we identified heterozygous mutations in. Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.
Pdf threedimensional facial morphology in cantu syndrome. As a service to our customers we are providing this early version of the manuscript. Printable pdf open all close all cantu syndrome is a rare condition characterized by excess hair growth hypertrichosisa distinctive facial appearance. Links to pubmed are also available for selected references. Community health consequences of a secondimpact syndrome. The rarity of her condition means that when we connect with other children with cantu syndrome. This article is within the scope of wikiproject medicine, which recommends that medicinerelated articles follow the manual of style for medicinerelated articles and that biomedical information in any article use highquality medical sources. The cantu clinic and collaborative research efforts came about when roads coverged for two different groups at washington university medical center. Some features are suggestive of a storage disorder, including macrocephaly and coarse facial features, with a broad nasal bridge, epicanthal folds, wide mouth. Cantu syndrome genetic and rare diseases information center.
Fatal second impact syndrome in rowan stringer, a 17year. Cantu syndrome and related disorders ncbi bookshelf. Effects of electrical stimulation in people with post. We report a case of sis in rowan stringer, age 17, a rugby player who sustained a fatal brain injury despite prompt medical therapy including. If this is the first time you use this feature, you will be asked to authorise cambridge core to connect with your account. Oct 28, 20 mutation of kcnj8 in a patient with cantu syndrome with unique vascular abnormalities support for the role o f katp channels in this condition. The features of the disorder vary among affected individuals. Cantu syndrome cs is a rare disease characterized by congenital hypertrichosis, distinct facial features, osteochondrodysplasia, and cardiac defects. Oct 02, 2014 cantu syndrome and the related disorders acromegaloid facial appearance afa and hypertrichosis and acromegaloid facial features haff are characterized by congenital hypertrichosis. Cs includes dilated vasculature, marked cardiac hypertrophy, and other cardiovascular abnormalities. If you have problems viewing pdf files, download the latest version of adobe reader.
Browse az genetic and rare diseases information center. By redirecting your social media traffic to your website, gosoa. Using an exomesequencing approach applied to one probandparent trio and three unrelated single cases, we identified heterozygous mutations in abcc9 in all probands. Fragile x syndrome fxs is the most common single gene cause of intellectual disability and it is characterized by a cgg expansion of more than 200 repeats in the fmr1 gene, leading to methylation of the promoter and gene silencing. Full text full text is available as a scanned copy of the original print version. Fatal second impact syndrome in rowan stringer, a 17yearold rugby player. Jci glibenclamide reverses cardiovascular abnormalities.
Subarachnoid hemorrhage due to cervical cord tumor in a. The innovations in genetic testing have made the diagnosis of this disorder possible, which was not available when the patient first presented. Oct 23, 2000 cantu syndrome cs is characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and coarse facial appearance. Cantu syndrome was first recognized in by doctor cantu, working in. Cantu syndrome, first described in 1982, also known as hypertrichotic osteochondrodysplasia, is a heterogeneous syndrome characterized by hypertrichosis, cardiac and skeletal anomalies and distinctive coarse facial features. Cantu syndrome, or hypertrichotic osteochondrodysplasia, is a condition characterized. Although originally thought to be an autosomal recessive condition, inheritance was subsequently shown to be autosomal dominant 1, 2. Mutations in kcnk4 that affect gating cause a recognizable. One of the toughest challenges faced by individuals with down syndrome and their families is isolation. Dominant missense mutations in abcc9 cause cantu syndrome. Fatal second impact syndrome in rowan stringer, a 17yearold.
The syndrome was first described in 1982 by dr cantu. In terms of endocrine abnormalities, one case of cantu syndrome with a kcnj8. The chemical classification of vancomycin is glycopeptides. Cantu syndrome genetic and rare diseases information. We herein report three japanese patients with cantu syndrome and describe their specific skin manifestations and alterations in the histopathology of their hair follicles and sebaceous glands. People with cantu syndrome have thick scalp hair that extends onto the forehead and grows down onto the cheeks. Appellant filed an additional claim for a may 16, 2010 injury, adjudicated by owcp under file number xxxxxx028. Jan 01, 2010 cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism. Cantu syndrome cs is a rare congenital systemic disease characterized by. Cantu syndrome interest group genetic and rare diseases.
May 06, 2019 this system is a better alternative to manual reporting as its goxpa. Englishlanguage articles were identified through a search of the medline and current contents databases. Abcc9 also known as sur2 is located on human chromosome 12p12. People with cantu syndrome have thick scalp hair that extends onto the forehead and grows down onto the cheeks in front of the ears. Second impact syndrome sis is associated with malignant brain swelling and usually occurs in young athletes with one or more prior, recent concussions. Catherine a brownstein division of genetics and genomics, the manton center for orphan disease research, boston childrens hospital, harvard medical school, boston, ma, usa. Abcc9 gene provides a blueprint for creating the sulfonylurea receptor 2 in the human body. Cantu syndrome is a rare condition characterized by excess hair growth. There is limited evidence to support that any intervention enhances recovery after a concussion.
Abcc9 related intellectual disability myopathy syndrome. Information vancomycin is a broad spectrum antibiotic that has activity against methicillin resistant strains of staphylococcus aureus and is generally reserved for serious drug resistant grampositive infections. Feb 27, 2005 cantu syndrome cantu syndrome herman, thomas. More refereed publications on sportsrelated concussion have appeared since 2000 than in all previous years combined.
Only about 50 cases of this rare disorder have been reported the world over. Community health consequences of a secondimpact syndrome death following concussion. Musculoskeletal diseases genetic and rare diseases. While most children and teens with a concussion recover quickly and fully. Genetic testing for cardiac ion channelopathies ahs 2025. Similar alterations were shared among those three patients and may be related to the function of sur2, namely the regulation of hair follicle growth. A family with autosomal dominant inherited dysmorphic. Cantu syndrome cs is a complex disorder caused by gainoffunction gof mutations in abcc9 and kcnj8, which encode the sur2 and kir6. The treatmentmanagement for cantu syndrome is based on surgical option for patent ductus arteriosus in early life, and management of scoliosis via bracing. Cantu syndrome is a rare condition characterized by excess hair growth hypertrichosis, a distinctive facial appearance, heart defects, and several other abnormalities. Three international consensus statements, documents from the national athletic trainers association nata and the american college of sports medicine acsm, and entire issues of the clinical journal of sport medicine and the journal of athletic training have been devoted. United states department of labor employees compensation. Taken together, our findings show that cantu syndrome is caused by dominant mis sense mutations in abcc9.
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