chondrodysplasia punctata/vomiting

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

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

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