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blepharophimosis/fiabhras

Sábháiltear an nasc chuig an gearrthaisce
AiltTrialacha cliniciúlaPaitinní
3 torthaí
The authors describe the surgical approach, findings, and 8-year follow-up in a 29-year-old woman, with severe Freeman-Sheldon syndrome, presenting with congenital blepharophimosis of both upper eyelids resulting in near-complete functional visual obstruction. To avoid possible Freeman-Sheldon

Spinal anesthesia in a patient with Schwartz-Jampel syndrome

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú
Logáil Isteach / Cláraigh
Background: Schwartz-Jampel syndrome (SJS) is a very rare inherited disorder characterized by multiple skeletal deformities, limited joint mobility, micrognathia, blepharophimosis, myotonia, and growth retardation. SJS is caused by

Schwartz-Jampel syndrome: a review of the literature and case report.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú
Logáil Isteach / Cláraigh
Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive skeletal dysplasia associated with myotonia. The manifestations of SJS include short stature, blepharophimosis, and skeletal anomalies. The combination of skeletal and muscular abnormalities may result in oro-dental manifestations such as
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An bunachar luibheanna míochaine is iomláine le tacaíocht ón eolaíocht

  • Oibreacha i 55 teanga
  • Leigheasanna luibhe le tacaíocht ón eolaíocht
  • Aitheantas luibheanna de réir íomhá
  • Léarscáil GPS idirghníomhach - clibeáil luibheanna ar an láthair (ag teacht go luath)
  • Léigh foilseacháin eolaíochta a bhaineann le do chuardach
  • Cuardaigh luibheanna míochaine de réir a n-éifeachtaí
  • Eagraigh do chuid spéiseanna agus fanacht suas chun dáta leis an taighde nuachta, trialacha cliniciúla agus paitinní

Clóscríobh symptom nó galar agus léigh faoi luibheanna a d’fhéadfadh cabhrú, luibh a chlóscríobh agus galair agus comharthaí a úsáidtear ina choinne a fheiceáil.
* Tá an fhaisnéis uile bunaithe ar thaighde eolaíoch foilsithe

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