RESULTS: The median age at presentation was 16 months (range, 14-72 months). All 4 cases consisted of bilateral plaque-like corneal scarring with reduced corneal sensation. [ncbi.nlm.nih.gov]

It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Disclaimer: Whonamedit? does not give medical advice. [whonamedit.com]

Presenting problem: Here we report on the natural history of a girl with SWS, born from two consanguineous Romanian parents. [bone-abstracts.org]

Discussion Management of SWS presents multiple challenges to the anaesthetist. In the case presented herein, skeletal abnormalities and fragility complicated obtaining intravenous access. [sciencerepository.org]

• Single Transverse Palmar Crease

  Clinical characteristics of SWS include bowing of the long bones (bent-bone dysplasia), hypertelorism, micrognathia, single transverse palmar crease, trismus, camptodactyly, deformities of joints and extremities, facial dysmorphism, hypotonia, growth [ai-online.info]

  transverse palmar crease 0000954 Square face Square facial shape 0000321 Talipes 0001883 Talipes valgus 0004684 Thin ribs Slender ribs 0000883 Thin skin 0000963 Tibial bowing Bowed shankbone Bowed shinbone [ more ] 0002982 Ulnar deviation of finger Finger [rarediseases.info.nih.gov]

• Intermittent Fever

  Episodic fever Increased body temperature, episodic Intermittent fever [ more ] 0001954 Short stature Decreased body height Small stature [ more ] 0004322 Skeletal dysplasia 0002652 Thickened cortex of long bones 0000935 30%-79% of people have these [rarediseases.info.nih.gov]

• Poor Feeding

  […] swallowing Swallowing difficulties Swallowing difficulty [ more ] 0002015 Enlarged joints 0003037 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 Femoral bowing Bowed thighbone 0002980 Flared metaphysis Flared wide portion of long [rarediseases.info.nih.gov]

• Short Finger

  […] neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short palpebral fissure Short opening between the eyelids 0012745 Short phalanx of finger Short finger bones 0009803 Short tibia Short shinbone [rarediseases.info.nih.gov]

• Tracheal Tug

  Her airway exam was notable for micrognathia, clear secretions, nasal flaring, tracheal tugging, and subcostal retractions. Relevant preoperative medications included acetaminophen and clonidine for dysautonomia. [sciencerepository.org]

• Malocclusion

  SWS patients have similar facial characteristics, including the following: Facial characteristics Low-set ears Squared jaw Small jaw Puckered chin Pursed lips Short neck Smooth tongue Malocclusion (crooked teeth) Hyperthermia (high body temperature) is [forgottendiseases.org]

• Corneal Opacity

  Bilateral corneal opacities were dealt with by means of corneal transplantation performed at the age of 6 years. [smw.ch]

• Thin Skin

  […] ribs Slender ribs 0000883 Thin skin 0000963 Tibial bowing Bowed shankbone Bowed shinbone [ more ] 0002982 Ulnar deviation of finger Finger bends toward pinky 0009465 Wide nasal base Broad base of nose Broad nasal base Increased width of base of nose [rarediseases.info.nih.gov]

• Muscle Hypotonia

  Infantile-onset spinocerebellar ataxia (IOSCA) is a severe, progressive neurodegenerative disorder characterized by normal development until age one year, followed by onset of ataxia, muscle hypotonia, loss of deep-tendon reflexes, and athetosis. [ncbi.nlm.nih.gov]

• Short Neck

  SWS patients have similar facial characteristics, including the following: Facial characteristics Low-set ears Squared jaw Small jaw Puckered chin Pursed lips Short neck Smooth tongue Malocclusion (crooked teeth) Hyperthermia (high body temperature) is [forgottendiseases.org]

  The affected baby had, in addition, agenesis of the corpus callosum and other non-specific dysmorphic features including microganthia, a short neck and low set ears. [cags.org.ae]

  Additional symptoms of SJS may include: A short stature Flattened facial features, narrow corners of the eyes, and a small lower jaw Joint deformities such as short neck, outward curving of the spine (kyphosis), or protruding chest (pectus carinatum, [verywell.com]

  neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short palpebral fissure Short opening between the eyelids 0012745 Short phalanx of finger Short finger bones 0009803 Short tibia Short shinbone [rarediseases.info.nih.gov]

  The head was large with a short neck and low set ears. The chest was broad and short and she had overlapping fingers and toes with bilateral single palmar crease and camptodactly. [ispub.com]

It is of crucial importance to diagnose such babies earlier in order to prevent extensive laboratory workup and to provide proper genetic counseling. [ncbi.nlm.nih.gov]

It is of crucial importance to diagnose such babies earlier in order to prevent extensive laboratory workup and to provide proper genetic counseling. © 2014 Wiley Periodicals, Inc. [ingentaconnect.com]

Previous workup included basic blood and urine as well as serologic, immunologic and broad metabolic studies that were all negative. Endocrine evaluation revealed prepubertal FSH, LH and estradiol levels. [epostersonline.com]

• Bilateral Pulmonary Opacities

  Notable findings at birth were small for gestational age, bilateral upper extremity contractures with clenched hands, and lower extremity bowing. Chest x-ray demonstrated bilateral pulmonary opacities. [sciencerepository.org]

[…] and bacterial community in three sludge treatment wetlands under different operating conditions. 61 Wang S...Liang J 32090846 2020 31 Evaluation of the fate of nutrients, antibiotics, and antibiotic resistance genes in sludge treatment wetlands. 61 Ma [malacards.org]

[…] and/or surgery for bone malformations, eyes protection from damage to prevent visual loss, and osteopenia or osteoporosis treatment. [orpha.net]

Treatment comprised topical lubrication, punctal plugs, lateral tarsorrhaphies, surgical optical iridectomies when required, and aggressive visual rehabilitation with frequent refraction and occlusion therapy if necessary. [ncbi.nlm.nih.gov]

Treatment Treatment The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional. [rarediseases.info.nih.gov]

We confirm that survival in this syndrome is possible and that the prognosis improves after the first year of life. This should be taken into consideration when counselling parents of affected children. [ncbi.nlm.nih.gov]

Prognosis - Stuve-Wiedemann syndrome Not supplied. Treatment - Stuve-Wiedemann syndrome Not supplied. Resources - Stuve-Wiedemann syndrome Not supplied. [checkorphan.org]

In those that do, however, respiratory problems improve, as does prognosis (1). A variety of musculoskeletal problems occur in SWS. [forgottendiseases.org]

Prognosis SWS is a life-threatening disease which is usually fatal during the neonatal period, due to respiratory distress or hyperthermic episode. [orpha.net]

The significance of the SMC to the etiology of SWS is unknown. This patient further demonstrates that SWS is not universally lethal. [ncbi.nlm.nih.gov]

[…] mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. 61 6 57 Dagoneau N...Cormier-Daire V 14740318 2004 5 Cardiovascular abnormalities associated with the Stuve-Wiedemann syndrome. 61 57 Raas-Rothschild A...Rein AJ 12910496 2003 6 Molecular etiology [malacards.org]

Mikelonis D et al. (2014) Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology. Orphanet J Rare Dis 9: 34. Full text on PubMed. 2. [forgottendiseases.org]

Etiology SWS is due to missense or nonsense mutations in the leukemia inhibitory factor receptor ( LIFR ) gene (5p13.1). [orpha.net]

Dawn Mikelonis, Cheryl L Jorcyk, Ken Tawara and Julia Oxford, Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology, Orphanet Journal of Rare Diseases, 9, 1, (34), (2014). M. A. Begam, W. Alsafi, G. N. Bekdache, F. [doi.org]

Summary Epidemiology SWS is a rare syndrome with few cases reported to date, but the disease is relatively common in the United Arab Emirates, apparently due to a high number of consanguineous unions, with a reported prevalence of approximately 0,5/10,000 [orpha.net]

Source: American Journal of Respiratory and Critical Care Medicine - April 19, 2019 Category: Respiratory Medicine Authors: Griese M, Bonella F, Costabel U, de Blic J, Tran NB, Liebisch G Tags: Am J Respir Crit Care Med Source Type: research Conclusions Epidemiological [medworm.com]

A cross-sectional epidemiologic study. Haley, R.W., Kurt, T.L. JAMA (1997) [ Pubmed ] Resolution in electron microscope autoradiography. III. Iodine-125, the effect of heavy metal staining, and a reassessment of critical parameters. [wikigenes.org]

Epidemiology [ edit ] Beckwith–Wiedemann syndrome has an estimated incidence of one in 13,700; about 300 children with BWS are born each year in the United States. [21] The exact incidence of BWS is unknown because of the marked variability in the syndrome's [en.wikipedia.org]

We suggest a common pathophysiological process, which could explain the cardiovascular findings that we observed immediately after birth in the two affected sibs. [ncbi.nlm.nih.gov]

Treatment of Relapsed/Refractory Hairy Cell Leukemia .................... ..................... ..................... ..................... ...................... ..................... ..................... ..................... .. 24 Diagnosis of Immune Pathophysiology [scribd.com]

The pathophysiology of the disease is not clearly understood, but electromyography shows nonvariable, continuous high frequency electrical activity ( 10 ). [ajnr.org]

Neither the pathophysiological mechanism nor the pathological course in our current patient seems similar to children with metabolic disorders. [link.springer.com]

For detailed information about rare diseases (pathophysiology, treatment options), treatment centres, and patient organisations, visit Orphanet (www.orpha.net) to find information about more than 5.000 rare diseases. [orphananesthesia.eu]

[…] and/or surgery for bone malformations, eyes protection from damage to prevent visual loss, and osteopenia or osteoporosis treatment. [orpha.net]

Fassier-Duval rodding has a role in the prevention of recurrence of deformity and should be considered as a means to reduce the number of operative procedures required. Level IV-therapeutic. [ncbi.nlm.nih.gov]