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chondrodysplasia punctata/urlacan
Sábháiltear an nasc chuig an gearrthaisce
3 torthaí
[Stomach volvulus in a female patient with chondrodysplasia punctata].
Ní féidir ach le húsáideoirí cláraithe ailt a aistriú
Logáil Isteach / Cláraigh
The case of an 11-year-old girl with a history of chondrodysplasia punctata is reported. She presented with a clinical picture of abdominal pain and vomiting. At surgical intervention an organo-axial gastric volvulus was found and a single derotation was performed. Three weeks after discharge the
Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature.
Ní féidir ach le húsáideoirí cláraithe ailt a aistriú
Logáil Isteach / Cláraigh
OBJECTIVE
Prenatal Binder profile is a well known clinical phenotype, defined by a flat profile without nasal eminence, contrasting with nasal bones of normal length. Binder profile results of a hypoplasia of the nasal pyramid (sometimes referred to as maxillonasal dysplasia). We report 8 fetuses
Clinical approach to inherited peroxisomal disorders.
Ní féidir ach le húsáideoirí cláraithe ailt a aistriú
Logáil Isteach / Cláraigh
At least 21 genetic disorders have now been found that are linked to peroxisomal dysfunction. Whatever the genetic defect might be, peroxisomal disorders should be considered in various clinical conditions, dependent on the age of onset. The prototype of peroxisomal disorders is represented by
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
