Ontology highlight
ABSTRACT:
SUBMITTER: Felcht M
PROVIDER: S-EPMC3047285 | biostudies-literature | 2010
REPOSITORIES: biostudies-literature
Felcht Moritz M Dikow Nicola N Goebeler Matthias M Stroebel Philipp P Booken Nina N Voßmerbäumer Urs U Merx Kirsten K Henzler Thomas T Marx Alexander A Moog Ute U Goerdt Sergij S Klemke Claus-Detlev CD
BMJ case reports 20100519
We present the case of a 49-year-old Caucasian man whose main complaints were wart-like skin changes and scrotal lymphoedema. Furthermore, our patient showed signs of a common hereditary disease: lymphoedema, short stature, webbed neck, low frontal and posterior hairline, downslanting palpebral fissures, pale blue iris, broad nose, flat philtrum, and prominent nasolabial folds. His ears were low set and retroverted with a thick helix. However, no diagnosis was made for 49 years. The interdiscipl ...[more]