4 niðurstöður
Introduction. Bloom syndrome (BS) is an inherited disorder due to mutation in BLM gene. The diagnosis of BS should be considered in patients with growth retardation of prenatal onset, a photosensitive rash in a butterfly distribution over the cheeks, and an increased risk of cancer at an early age.
This is a case of chromosome 22q11 deletion in a female Chinese infant with DiGeorge syndrome. Cardiac anomalies included a type B interrupted aortic arch from the descending aorta with an aberrant right subclavian artery, a large ventricular septal defect, a small atrial septal defect and a large
A 27-month-old girl with Dubowitz syndrome, a rare autosomal recessive disorder, is presented. The diagnosis was established by a series of symptoms typical for this syndrome: intrauterine and postnatal growth retardation, microcephaly, recurrent diarrhea and respiratory infections, characteristic
Mevalonic acidemia is a rare metabolic disorder due to mevalonate kinase deficiency which affects the biosynthesis of cholesterol and nonsterol isoprenes. We report the first case of Japan. The clinical course is characterized by intrauterine growth retardation, postnatal growth failure, intractable