Familial Adenomatous Polyposis
hemorrhage, a history of cancer, active bacterial infection, use of dimethyl sulfoxide, a history of aspirin allergy, or a body weight of less than 20 kg.[nejm.org]
Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr. 1975 Jan. 86(1):84-8. [Medline]. Bisgaard ML, Fenger K, Bülow S, Niebuhr E, Mohr J.[emedicine.medscape.com]
English familial adenomatous polyposis autosomal dominant disease that is has material basis in mutations in the APC gene and involves formation of numerous polyps in the[wikidata.org]
Blue Rubber Bleb Nevus Syndrome
It is even a rare cause of gastrointestinal hemorrhage during childhood. We describe a 6-year-old boy who had multiple venous malformations all over his body.[ncbi.nlm.nih.gov]
Phone: 617-636-5025 Fax #: 617-636-8122 Pediatric surgery, pediatric trauma, congenital disorders requiring surgery in newborns, GI inflammatory diseases in children, pediatric[floatinghospital.org]
"Blue rubber bleb nevus syndrome" is an autosomal dominant trait characterized by multiple cutaneous and extracutaneous angiomas of dark blue color and rubbery consistency[ncbi.nlm.nih.gov]
Juvenile Polyp
Keywords : Polyps, Intestinal Polyposis, Adenoma, Gastrointestinal Hemorrhage, Colorectal Neoplasms, Humans.[casereports.in]
Wireless capsule endoscopy for oscure small-bowel disorders: Final results of the first pediatric controlled trial . Clin Gastroenterol Hepatol 2005; 3 :264–270. 21.[nature.com]
An autosomal dominant condition usually associated with mutations in 2 genes – BMPRIA (bone morphogenic protein receptor, type 1A) and SMAD4 (mothers against decapentaplegic[ajol.info]
Gardner Syndrome
(epistaxis, gastrointestinal bleeding and otorrhagia); and non-specific symptoms such as chest pain, headache, arthralgia and fever; which in many occasions oblige the clinician[elsevier.es]
Affiliation: Discipline of Pediatric Otorhinolaryngology, Department of Otorhinolaryngology and Human Communication Disorders, EPM UNIFESP[scielo.br]
Gardner syndrome, a variant of familial adenomatous polyposis, is an autosomal dominant genetic disease characterized by the combined presence of multiple intestinal polyps[ncbi.nlm.nih.gov]
Hereditary Hemorrhagic Telangiectasia
Patients can suffer from recurrent nosebleeds and gastrointestinal hemorrhage.[symptoma.com]
The monoclonal antibody bevacizumab, seems to be a good option in this disorder.[ncbi.nlm.nih.gov]
BACKGROUND AND OBJECTIVE: Pulmonary arterial hypertension (PAH) is a rare disease that could be inherited with an autosomal dominant pattern.[ncbi.nlm.nih.gov]
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage may not be apparent and may present as iron deficiency anemia.[emedicine.medscape.com]
[…] risks separately, with the latter disorders discussed in the article by Tabori and colleagues in this CCR Pediatric Oncology Series ( 1 ).[dx.doi.org]
From Wikidata Jump to navigation Jump to search autosomal dominant genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal[wikidata.org]
Von Willebrand Disease
Summary Clinical description The disease manifests as mucocutaneous bleeding anomalies (menorrhagia, epistaxis, gastrointestinal hemorrhage etc. ).[orpha.net]
John Akabutu Comprehensice Centre for Bleeding Disorders – Pediatric Division Stollery Children’s Hospital Clinic Director Dr.[hemophilia.ca]
Type 2B von Willebrand disease is also an autosomal dominant trait.[emedicine.medscape.com]
Ehlers-Danlos Syndrome
In 70% of cases, vascular rupture or dissection, gastrointestinal perforation, or organ rupture is a presenting sign.[ncbi.nlm.nih.gov]
The paucity of patients described so far makes this disorder poorly defined at clinical level.[ncbi.nlm.nih.gov]
DOMINANT EHLERS-DANLOS SYNDROME, TYPE V EHLERS-DANLOS SYNDROME, TYPE VI EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE[web.archive.org]
Hemolytic Uremic Syndrome
[…] infection with EHEC may result in diarrhea or hemorrhagic colitis, followed in severe cases by HUS. 1 Although the bacteria are noninvasive, 5 virulence factors gain access[doi.org]
Rekha Hans, Satya Prakash, Ratti Ram Sharma and Neelam Marwaha, Role of therapeutic apheresis in pediatric disorders, Pediatric Hematology Oncology Journal, 10.1016/j.phoj[doi.org]
Both autosomal dominant and autosomal recessive forms of inheritance are observed. Autosomal recessive HUS often occurs early in childhood.[emedicine.medscape.com]
Hemophilia
[…] and gastrointestinal hemorrhage.[doi.org]
John Akabutu Comprehensice Centre for Bleeding Disorders – Pediatric Division Stollery Children’s Hospital Clinic Director Dr.[hemophilia.ca]
Its inheritance is autosomal dominant, which means that a parent with the gene has a 50/50 chance to pass it on.[stanfordchildrens.org]