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Cerebro-Oculo-Facio-Skeletal Syndrome

Cockayne Syndrome


Presentation

  • Presented alphabetically for quick reference, the book covers over 1600 common and uncommon syndromes, systemic diseases and inherited disorders.[books.google.com]
  • Congenital muscular dystrophy-like changes were present in this patient. It is debated whether the clinical spectrum of the COFS phenotype should be expanded to include congenital muscular dystrophy:[ncbi.nlm.nih.gov]
  • In this report, we present evidence that two probands related to the Manitoba Aboriginal population group within which COFS syndrome was originally reported have cellular phenotypes indistinguishable from those in CS cells.[ncbi.nlm.nih.gov]
  • Alwadhi and Pankaj Garg Summary points: A seven-day-old with microcephaly with facial dysmorphism is presented.[docguide.org]
  • The clinical, radiological and pathological features of the patients are presented. One of the two cases had 11 pairs of ribs (Case 1) and the other had three-lobed left lung (Case 2), neither of which has been described in COFS syndrome previously.[ncbi.nlm.nih.gov]
Hypoplastic Nails
  • Note the posture of the extremities, hypoplastic, nail-less toes, deep set small eyes and the blepharophimosis. Large low set ear pinna and long phil- trnm are also seen Fig. 3. CT scans of Case 2 at the age of 21A years.[myslide.es]
Retinal Pigmentation

Treatment

  • Treatment Treatment Options: No treatment is available for this disorder. References[disorders.eyes.arizona.edu]
  • Treatment Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available. Treatment Treatment is supportive and symptomatic.[ninds.nih.gov]
  • […] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience[books.google.com]
  • Diagnosis and treatment The condition is diagnosed by the presence of the typical physical characteristics, and the unusually slow growth. Confirmation is by molecular genetic testing.[news-medical.net]
  • TREATMENT Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available. PROGRESSION COFS is a fatal disease. Death usually occurs by 5 years of age.[secure.ssa.gov]

Prognosis

  • Prognosis COFS is a fatal disease. Most children do not live beyond five years. x Prognosis COFS is a fatal disease. Most children do not live beyond five years. Prognosis COFS is a fatal disease. Most children do not live beyond five years.[ninds.nih.gov]
  • Prognosis - Cerebro-oculo-facio-skeletal syndrome Not supplied. Treatment - Cerebro-oculo-facio-skeletal syndrome Not supplied. Resources - Cerebro-oculo-facio-skeletal syndrome Not supplied.[checkorphan.org]
  • The prognosis for those with Cockayne syndrome is poor, as death typically occurs by the age of 12.[en.wikipedia.org]
  • The long-term prognosis is bueno.9, 20, 21 multiple arthrogryposis: are a heterogeneous group of congenital entities not only take distal joints and not all are of genetic cause. 12 arthrogryposis multiplex congenital (Amyoplasia) (OMIM 108110) arthrogryposis[milyyjess.blogspot.com]

Etiology

  • Elsevier Health Sciences , 18.08.2013 - 979 Seiten 1 Rezension Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable[books.google.com]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Numerous etiologies are responsible for patho- logic intracranial calcifications [7, 10]. Tumors, some cerebral inflammatory diseases, vascular abnormali- ties and old intracranial hemorrhages are the most usual etiologic factors [7, 10].[myslide.es]

Epidemiology

  • Neto RM, Castilla EE, Paz JE (1981) Hypospadias: an epidemiological study in Latin America. Am J Med Genet 10:5 CrossRef Google Scholar 26. Opitz JM (1982) The developmental field concept in clinical genetics.[link.springer.com]
  • ., Genetic-epidemiologic study of omphalocele and gastroschisis: Evidence for heterogeneity. Am. J. Med. Genet. 44 (1992) 668–675. PubMed CrossRef Google Scholar Verloes, A., C. Elmer, D.[link.springer.com]
Sex distribution
Age distribution

Pathophysiology

  • PubMed Central PubMed View Article Google Scholar Laugel V, Dalloz C, Stary A, Cormier-Daire V, Desguerre I, Renouil M, Fourmaintraux A, Velez-Cruz R, Egly JM, Sarasin A, Dollfus H: Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology[ojrd.biomedcentral.com]

Prevention

  • […] sunburn by use of sunglasses and sunscreen creams, and proper protective clothing Treatment of eye and hearing problems as needed Preventive care Physical therapy to prevent loss of ambulation Ensuring a safe environment to prevent falls and further[news-medical.net]
  • Prevention - Cerebro-oculo-facio-skeletal syndrome Not supplied. Diagnosis - Cerebro-oculo-facio-skeletal syndrome signs and symptoms of Cerebro-Oculo-Facio-Skeletal Syndrome may vary on an individual basis for each patient.[checkorphan.org]
  • […] by changes in the white matter of the brain (known as leukodystrophy) deafness development of visual problems due to retinitis pigmentosa bones show thinning, the back becomes curved and there will be joint contractures (stiffness of the joint that prevents[contact.org.uk]
  • Dexamethasone is a safe method for the prevention of PONV that may be recommended in pediatric anesthesiology.[medworm.com]
  • The goals of this research include finding ways to prevent, treat, and cure these disorders. Information from the National Library of Medicine’s MedlinePlus Degenerative Nerve Diseases[ninds.nih.gov]

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