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Rudiger's Syndrome

Rudiger Syndrome


Presentation

  • The parents did not present any minor or major anomaly of hands, feet or skin, hair and teeth. The couple had a previous history of two children with hands and feet malformations similar to the present patient.[ncbi.nlm.nih.gov]
  • At last follow up, 6 months after presentation, the patient had no visual complaints and maintained stable proptosis without diplopia. Deep Parikh, B.A., and Roman Shinder, M.D.[docksci.com]
  • He has presented more than 450 papers and posters in National and International Congress (RSNA, ESGAR, ECR, ISR, AOCR, AINR, JRS, SIRM, AINR).[books.google.de]
  • EEC syndrome sans clefting: Variable clinical presentations in a family. Indian J Dermatol Venereol Leprol 2007;73:46-8 How to cite this URL: Thakkar S, Marfatia Y. EEC syndrome sans clefting: Variable clinical presentations in a family.[ijdvl.com]
Coarse Facial Features
  • "Severe developmental failure with coarse facial features, distal limb hypoplasia, thickened palmar creases, bifid uvula, and ureteral stenosis: a previously unidentified familial disorder with lethal outcome". J.[en.wikipedia.org]
Microdontia
  • Oral examination disclosed adontia and microdontia (Fig. 1B), and ectrodactyly of the hands and feet was noted on extremity evaluation (Fig. 1C).[docksci.com]
Lacrimation
  • Presence of lacrimal fistula has only been described in 2 prior cases,8,9 and in both, the fistula exited to the lower eyelid skin. The described patient is unique in that the lacrimal fistula communicated to the caruncle.[docksci.com]
  • Lacrimal duct obstruction and genitourinary defects are also common ï ndings, 2,3 and these features were not present in our patient.[redalyc.org]
Diplopia
  • Because the patient was asymptomatic, he was observed and maintained a stable amount of proptosis without diplopia or change in vision.[docksci.com]
Conjunctival Hyperemia
  • Other ocular signs present in the described patient are commonly associated with EEC syndrome including hypoplastic meibomian glands, thin eyelid cilia and brow hair, and conjunctival hyperemia.10 The management of the various congenital lacrimal anomalies[docksci.com]
Unilateral Ptosis
  • In this case, Horner syndrome was eventually considered because of the patient’s unilateral ptosis with lower eyelid elevation, young age, and ipsilateral nonspecific headache.[docksci.com]
Miosis
  • In his report, a 73-yearold patient with known Horner syndrome due to an internal carotid artery dissection used 2 drops of naphazoline to the affected eye to reverse ptosis and miosis as a cosmetic agent when going out in public.[docksci.com]
Hearing Impairment
  • Additional manifestations include hearing impair- ment and urinary tract anomalies. 1 Our aim was to describe a rare case of siblings affected by EEC syndrome presenting normal parents.[redalyc.org]
Alopecia
  • Hypoplastic breast Ankyloblepharon Geniturinary defects Hypohydrosis Lacrimal duct obstruction Skin erosion Alopecia Holoprosencephaly Table 1 Comparative fndings between our case and p63 associated conditions and split hand-Foot malFormations (SHFM)[redalyc.org]
Dry Hair
  • Gross inspection revealed cleft lip and palate status-post repair, a pointed nose, lightly pigmented dry hair and skin, and Accepted for publication September 11, 2013.[docksci.com]
Short Neck
  • At physi- cal examination, it was verified the presence of: bilateral cleft lip and complete cleft palate (involving hard and soft palate), micrognathia, abnormal low-set ears, short neck, and limb defects affecting the central ray of the hands and feet[redalyc.org]
Mydriasis
  • Ophthal Plast Reconstr Surg, Vol. 31, No. 2, 2015 a report by Tomelleri et al.9 affirms the authors’ suspicion that naphazoline can mask symptoms of Horner syndrome by causing mydriasis and reversal of the ptosis.[docksci.com]

Workup

  • Although the patient was receiving metformin treatment for insulin resistance, she had not undergone any prior workup to identify a unifying syndromic cause for her physical and biochemical findings.[mdedge.com]

Treatment

  • , oral implantology, supportive treatment, and ethics, legal, and practical matters.[books.google.com]
  • To date, there is no approved medication for the treatment of DDS and there is no randomized controlled trial on the psychotherapeutic treatment of DDS [ 3 ].[bmcpsychiatry.biomedcentral.com]
  • Inflammaging, metabolic syndrome and melatonin : a call for treatment studies [en línea]. Preprint del documento publicado en Neuroendocrinology 2017;104(4):982-392. doi: 10.1159/000446543. Disponible en: [Fecha de consulta: ….][bibliotecadigital.uca.edu.ar]

Prognosis

  • Miller Classification and prognosis of inflammatory muscle disease Rheum Dis Clin North Am, 20 (1994), pp. 811-826 [8.] C. Campos Fernández, J. Calvo Catalá, M.I. González-Cruz Cervellera, J.V. Parra Ródenas, M.[archbronconeumol.org]

Etiology

  • Etiology of Periodontal Diseases (Part 4) provides a more comprehensive background in periodontal anatomy, physiology, and pathogenesis.[books.google.com]
  • […] that is characterized by thick, hyperpigmented, and verrucous plaques. 2,3 Although most common in symmetric distribution on flexural and intertriginous areas, AN also may involve mucosal surfaces. 4 Acanthosis nigricans is associated with multiple etiologic[mdedge.com]
  • Concerning the etiology of DDS, it has been found that harm-avoidant temperament was associated with DDS in a cross-sectional study [ 12 ].[bmcpsychiatry.biomedcentral.com]

Epidemiology

  • Epidemiology underpinning research in the aetiology of orofacial clefts. Orthod Craniofac Res. 2007;10(3):114–120 9 Bell JC, Raynes-Greenow C, Bower C, Turner RM, Roberts CL, Nassar N.[colombiamedica.univalle.edu.co]
  • J Clin Psychiatry 47:605–606 PubMed Google Scholar Joseph AB (1994) Observations on the epidemiology of the delusional misidentification syndromes in the Boston metropolitan area: April 1983–June 1984.[link.springer.com]
  • In Germany, its administrative prevalence is far below the threshold for orphan diseases, although according to epidemiological surveys the diagnosis should be comparable frequent as anorexia nervosa for instance.[bmcpsychiatry.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • Gain fresh perspectives and up-to-date insights from the world’s leading authorities on the pathophysiology, diagnosis, and management of stroke.[books.google.com]
  • Studies in patients with stroke include the analysis of the pathophysiology and management of the acute disease and of cognitive rehabilitation techniques in the acute and chronic phase following stroke.[f1000.com]
  • Report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder. Medicine (Baltimore). 1973;52(1):53-71.[malattierare.regione.veneto.it]

Prevention

  • Stay up to date on hot topics such as mechanisms of action of commonly used drugs, neuronal angiogenesis and stem cells, basic mechanisms of spasm and hemorrhage, prevention of stroke, genetics/predisposing risk factors, and much more.[books.google.com]
  • Supported by Research to Prevent Blindness. The authors have no financial or conflicts of interest to disclose.[docksci.com]
  • His research aims at understanding the molecular basis of their pathogenicity and using this knowledge in practical ways to prevent disease.[vetmed.auburn.edu]
  • (growing a biofilm; preventing development defects using chemical genetics; reversing Rett syndrome)(Clinical report)." Lab Animal 36.4(2007): 9. Stachon, A., Assumpção Jr, F.B., Raskin, S..[amadeusjournal.emnuvens.com.br]

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