Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype.
Maria Elisa AmodeoElena InzaghiAnnalisa DeodatiStefano CianfaraniPublished in: Molecular genetics & genomic medicine (2021)
Dubowitz syndrome (DS) includes different clinical findings variably occurring. Subjects with a Dubowitz phenotype should be carefully monitored for endocrinological anomalies. The prompt recognition of potential life-threatening endocrinological condition for example adrenal insufficiency is mandatory in order to start an adequate and early treatment.