Presentation
Synonym(s): Hemifacial hyperplasia-strabismus syndrome Prevalence: 1 / 1 000 000 Inheritance: Autosomal dominant Age of onset: Childhood ICD-10: Q67.4 OMIM: 141350 UMLS: C1841640 MeSH: - GARD: 2633 MedDRA: - The documents contained in this web site are presented [orpha.net]
Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age. [books.google.com]
Normal results Bence Jones proteins normally are not present in the urine. Abnormal results Bence Jones proteins are present in 50-80% of people with multiple myeloma. [medical-dictionary.thefreedictionary.com]
Reciprocal burnout model (RBM): Interconnectedness of interpersonal and intrapersonal factors [ presentation, pps, 323 kB] Pšeničny A. [psy.ff.uni-lj.si]
Respiratoric
-
Respiratory Distress
Severe respiratory distress can develop, similar to infants with extensive cystic hygroma. Therefore, a thorough clinical assessment of the upper airway is mandatory prior to anesthesia. [accessanesthesiology.mhmedical.com]
VILI is associated with substantial morbidity and mortality in mechanically ventilated patients with and without acute respiratory distress syndrome. At the cellular level, VILI induces necrotic cell death. [insight.jci.org]
Eyes
-
Esotropia
Bencze syndrome - syndrome characterized by cleft palate, amblyopia, esotropia, hemifacial hyperplasia. Synonym(s): hemifacial hyperplasia with strabismus [medical-dictionary.thefreedictionary.com]
Abstract This is the second report of a dominantly inherited syndrome of facial asymmetry, esotropia, and amblyopia (Bencze syndrome). The phenotypic spectrum is expanded to include submucous cleft palate. [ncbi.nlm.nih.gov]
[…] hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia [rarediseases.oscar.ncsu.edu]
[…] malformation syndrome involving the abnormal growth of the facial skeleton and eye problems in some cases as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia [checkorphan.org]
-
Strabismus
Autosomal dominant transmitted disorder with strabismus and hemifacial hyperplasia. Hemifacial Hyperplasia with Strabismus. Only a few cases have been described in the world literature, and the true incidence is unknown. [accessanesthesiology.mhmedical.com]
[…] structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. [orpha.net]
[…] neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. [rarediseases.oscar.ncsu.edu]
[…] asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. [checkorphan.org]
Synonym(s): hemifacial hyperplasia with strabismus [medical-dictionary.thefreedictionary.com]
-
Blurred Vision
Ocular: Dilated pupils; blurred vision. Clinical: Sweating; flushing; pilomotor activity; nasal stuffiness; headaches; generalized seizures ; bradycardia; hypertension. Cole TM, et al. [dentisty.org]
Face, Head & Neck
-
Hypertelorism
[…] hyperornithinemia-hyperammonemia-homocitrullinuria, hyperostosid, hyperostosis, hyperostotic, hyperoxaluria, hyperparathyroidism, hyperphenylalaninemia, hyperphenylalaninemic, hyperpigmentation, hyperpigmented, hyperpipecolatemia, hyperplasia, hyperplastic, hyperprolinaemia, hypersomnia, hypertelorism [rapsodyonline.eurordis.org]
-
Facial Hemihypertrophy
[PubMed: 4511798] Sculerati N, Jacobs JB: Congenital facial hemihypertrophy: A report of a case with airway compromise. Head Neck Surg 8:124, 1985. [PubMed: 4077551] [accessanesthesiology.mhmedical.com]
Workup
Other Pathologies
-
Neurofibrillary Tangle
However, its expression pattern and association with the pathognomonic neurofibrillary tangles (NFTs) in different brain regions and neuropathological stages of AD is not clear. [mdpi.com]
Treatment
Treatment - Bencze syndrome Not supplied. Resources - Bencze syndrome [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]
Treatment of amblyopia depends on the type. However, the younger the patient, the more likely that the treatment will be successful. [medical-dictionary.thefreedictionary.com]
Summarized for each entry are a listing of the anomalies associated with the syndromes, the treatment prognosis that allows proper choices of treatment plans, and differential diagnosis."--Jacket. [worldcat.org]
investigated the effect of Nebivolol treatment on the oxidative stress markers in Patients with CSF [ 37 ], a treatment regimen consisting of Nebivolol 5 mg per day for 6 months caused a significant decrease in the levels of MDA, NO and SOD level in [omicsonline.org]
Prognosis
Prognosis - Bencze syndrome Not supplied. Treatment - Bencze syndrome Not supplied. Resources - Bencze syndrome [checkorphan.org]
Summarized for each entry are a listing of the anomalies associated with the syndromes, the treatment prognosis that allows proper choices of treatment plans, and differential diagnosis."--Jacket. [worldcat.org]
Summarized for each entry are a listing of the anomalies associated with the syndromes, the natural history of the disorder, and the treatment prognosis, which allows proper choices of treatment plans, and differential diagnosis. [booktopia.com.au]
Conf Proc IEEE Eng Med Biol Soc. 2007;2007:6629-32. - Abstract PubMed Wittmann S, Zirn B, Alkassar M, Ambros P, Graf N, Gessler M Loss of 11q and 16q in Wilms tumors is associated with anaplasia, tumor recurrence, and poor prognosis. [uni-saarland.de]
Etiology
It has a diverse range of immunological manifestations and is more prominent in young women, with the exact etiology still unknown. Here is the latest research on systemic lupus erythematosus. [meta.org]
The congenital facial diplegia syndrome: clinical features, pathology and etiology: a review of sixty-one cases. Brain. 1939 ; 62: 381 – 403. Google Scholar Kanemoto, N. Kanemoto, K. Kamoda, T. Hasegawa, M. Arinami, T. [journals.sagepub.com]
You'll also find up-to-date information about the etiology of each disorder. [worldcat.org]
The analysis studied the occurrence of voice and resonance disorders in general, the occurrence in different etiological subtypes of syndromes and the association with other disorders, in particular clefting, a cognitive impairment and hearing problems [karger.com]
Clinically, it is defined as the slow passage of contrast material in epicardial coronary arteries in the absence of atherosclerotic lesions, spasm of the epicardial coronary arteries or any secondary etiology that may explain the slow flow [ 10, 11 ] [omicsonline.org]
Epidemiology
The changing epidemiology of SIDS following the national risk reduction campaigns. Pediatr Pulmonol Suppl 1997; 16: 117–119. Google Scholar Crossref Medline 12. Mitchell, E, Krous, HF, Donald, T. [journals.sagepub.com]
Rare disease registries pool data to achieve a sufficient sample size for epidemiological and/or clinical research [16, 17]. [genomemedicine.biomedcentral.com]
Pathophysiology
In this review, we touch briefly on the clinical presentation and the pathophysiology of the CSY and then we examine, in depth, the currently available evidence for the management of patients affected by this disorder. [omicsonline.org]
Prevention
Prevention - Bencze syndrome Not supplied. Diagnosis - Bencze syndrome Not supplied. Prognosis - Bencze syndrome Not supplied. Treatment - Bencze syndrome Not supplied. Resources - Bencze syndrome [checkorphan.org]
Amblyopia can result from any condition that prevents the eye from focusing clearly. Amblyopia can be caused by the misalignment of the two eyesa condition called strabismus. [familydiagnosis.com]
Gozal, David; Colell, Anna; Pinol Ripoll, Gerard; Navajas Navarro, Daniel; Almendros López, Isaac; Farré Ventura, Ramon 24-May-2018Acetylsalicylic acid prevents intermittent hypoxia-induced vascular remodeling in a murine model of sleep apneaSuarez [diposit.ub.edu]
Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive [jamanetwork.com]
Nat Protoc 3:14521456 Acknowledgement This function was supported before the Cancer Prevention and Probing Organize of Texas. [nhha.org]