Fetal hemivertebra: a rare form of 18q deletion prenatal presentation
Sign Up to like & getrecommendations! Published in 2023 at "BMJ Case Reports"
DOI: 10.1136/bcr-2022-251914
Abstract: The 18q deletion is a rare condition with several described features. A common phenotype includes short stature, microcephaly, facial defects, small feet, intellectual disability and hypotonia. We present a rare case of a fetus with… read more here.
Keywords: deletion; hemivertebra rare; fetal hemivertebra; 18q deletion ... See more keywords
Subcutaneous immunoglobulin replacement therapy in a patient with 18q deletion syndrome, primary immune deficiency, and type 1 diabetes
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Immunopathology and Pharmacology"
DOI: 10.1177/20587384211039400
Abstract: 18q deletion syndrome (OMIM #601808) results from a deletion of a part of a long arm of 18 chromosome and is characterized by mental retardation and congenital malformations. We present an exceptional case of a… read more here.
Keywords: 18q deletion; deletion syndrome; type diabetes; immune deficiency ... See more keywords