Ontology highlight
ABSTRACT:
SUBMITTER: Sharaf B
PROVIDER: S-EPMC5695322 | biostudies-literature | 2017 Nov
REPOSITORIES: biostudies-literature
Sharaf Basel B Sabbagh Mohamed Diya MD Roh Si-Gyun SG
BMJ case reports 20171101
Noonan syndrome (NS) is a relatively common genetic disorder with an autosomal dominant inheritance pattern affecting 1 in 1000-2500 births. Patients with this syndrome present with characteristic facial, musculoskeletal, cardiac and endocrine abnormalities. Lack of postpubertal breast development is a common manifestation of this syndrome and may result in severe hypomastia and a masculine appearance of the female chest. We report the first case of breast reconstruction in a 24-year-old woman w ...[more]