Presentation
Preclinical models used for cellular therapy studies… We present an equilibrium model of the market for higher education. [semanticscholar.org]
C2931775 MeSH: - GARD: 290 MedDRA: - A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021) Detailed information : produced/endorsed by ERN(s) : produced/endorsed by FSMR(s) The documents contained in this web site are presented [orpha.net]
Hallermann-Streiff Syndrome--Confluence of Systems The purpose was to report a case of Hallermann-Streiff syndrome (HSS) with atypical presentation and present a brief literature review. [acarindex.com]
The patient also presented with premature alopecia and dermatrophia of the face. The patient was mildly mentally retarded, but had a normal stature. [journals.lww.com]
Defects in other organs were present but less frequent, and included lung hypoplasia, hepatomegaly or other liver dysfunctions and congenital heart disease. [mdpi.com]
Entire Body System
- Anemia
Diamond-Blackfan anemia 2 Diamond-Blackfan anemia 3 Dianzani autoimmune lymphoproliferative syndrome Diaphragmatic agenesis radial aplasia omphalocele Diaphragmatic defect limb deficiency skull defect Diaphragmatic hernia exomphalos corpus callosum agenesis [personalizedcause.com]
Face, Head & Neck
- Beaked Nose
Resources * Beaked nose: * Cataract: A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature. * Death: The cessation of life * Dwarfism: Short stature. [checkorphan.org]
Treatment
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]
The treatment of HSS should focus on airway management, visual evaluation and therapeutic intervention, and craniofacial corrections. [journals.lww.com]
Positive outcome after endoscopic treatment of a symptomatic convexity arachnoid cyst in an elderly. BRITISH JOURNAL OF NEUROSURGERY. Article. 1-2. [imas12.es]
Data treatment was performed in accordance with Privacy Law (European regulation GDPR 2016/679). [mdpi.com]
Prognosis
PMID: 29291206Free PMC Article Prognosis Košutova P, Mikolka P Physiol Res 2021 Dec 30;70(Suppl4):S567-S583. doi: 10.33549/physiolres.934767. [ncbi.nlm.nih.gov]
HSS is a rare disorder whose prognosis is not optimistic. Thus, it is important for ophthalmologists to distinguish the features of HSS and to treat these patients promptly to save lives and improve the quality of life. REFERENCES 1. Cohen MM. [journals.lww.com]
Ligaments disruption: a new perspective in the prognosis of spinal cord injury NEURAL REGENERATION RESEARCH. Editorial Material. 9(5):456-457. [imas12.es]
Etiology
PMID: 24569125 Etiology Giudice V, Selleri C Semin Hematol 2022 Jan;59(1):13-20. Epub 2022 Jan 5 doi: 10.1053/j.seminhematol.2021.12.002. [ncbi.nlm.nih.gov]
The etiology of congenital cataracts: a survey of 386 cases. Can J Ophthalmol 1971;6:178–82. CAS PubMed Google Scholar Cohen MM Jr. Hallermann-Streiff syndrome: a review. Am J Med Genet 1991;41:488–99. [nature.com]
Hefti F, Bollini G, Dungl P, Fixsen J, Grill F, Ippolito E, Romanus B, Tudisco C, Wientroub S: Congenital pseudarthrosis of the tibia: history, etiology, classification, and epidemiologic data. J Pediatr Orthopaed 2000;9:11–15. [karger.com]
The inheritance pattern of HSS is still debated and the etiology still questioned. [journals.lww.com]
Epidemiology
Hefti F, Bollini G, Dungl P, Fixsen J, Grill F, Ippolito E, Romanus B, Tudisco C, Wientroub S: Congenital pseudarthrosis of the tibia: history, etiology, classification, and epidemiologic data. J Pediatr Orthopaed 2000;9:11–15. [karger.com]
The cri du chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet 1978;44:227–75. Google Scholar Kitsiou Tzeli S, Dellagrammaticas HD, Papas CB, Ladas ID, Bartsocas CS. [nature.com]
Trends in epidemiological and clinical characteristics in severe traumatic brain injury: Analysis of the past 25 years of a single centre data base NEUROCIRUGIA. Article. 25(5):199-210. [imas12.es]
Pathophysiology
CT-perfusion unveils subarachnoid haemorrhage pathophysiology: relationship between acute perfusion abnormalities, clinical grade and bleeding severity JOURNAL OF NEUROLOGY. Meeting Abstract. 257(1):54-54. Lobato, R. D., Lagares, A., Alen, J. [imas12.es]
Prevention
Variation in general supportive and preventive intensive care management of traumatic brain injury: a survey in 66 neurotrauma centers participating in the Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI [imas12.es]