Noonan Syndrome With Multiple Lentigines: Subtle Key Skin Clues to the Diagnosis.
Sign Up to like & getrecommendations! Published in 2021 at "Actas dermo-sifiliograficas"
DOI: 10.1016/j.ad.2019.07.024
Abstract: A 15-year-old woman was evaluated for generalized redness and roughness of the skin that had been present since childhood. She had congenital pulmonary valve stenosis, incomplete pyeloureteral duplication of the right kidney, and learning difficulties.… read more here.
Keywords: noonan syndrome; multiple lentigines; lentigines subtle; syndrome multiple ... See more keywords
MEN 2A syndrome – Multiple endocrine neoplasia with autosomal dominant transmission
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Surgery Case Reports"
DOI: 10.1016/j.ijscr.2020.07.015
Abstract: Highlights • Every case essential, because MEN 2A is reported in 500–1000 families worldwide.• This case reflects correct clinical steps in avoidance of possible complications.• It contributes to the existing limited literature reports.• MTC can… read more here.
Keywords: men syndrome; multiple endocrine; endocrine neoplasia; autosomal dominant ... See more keywords
Noonan syndrome with multiple lentigines and associated craniosynostosis
Sign Up to like & getrecommendations! Published in 2018 at "Clinical and Experimental Dermatology"
DOI: 10.1111/ced.13329
Abstract: B. S. McDonald, M. Pigors, D. P. Kelsell, E. A. O’Toole, E. Burkitt-Wright, B.Kerr and K. Batta Department of Dermatology, Watford General Hospital, Hertfordshire Hospitals NHS Trust, Watford, Hertfordshire, UK; Centre for Cell Biology and… read more here.
Keywords: medicine; noonan syndrome; dermatology; multiple lentigines ... See more keywords
Crouzon syndrome with multiple supernumerary teeth
Sign Up to like & getrecommendations! Published in 2017 at "Nigerian Journal of Clinical Practice"
DOI: 10.4103/1119-3077.187332
Abstract: Crouzon syndrome (CS) is an autosomal dominant disorder characterized by craniofacial deformities caused by the early closure of cranial sutures. It is diagnosed by the presence of a flat sphenoid bone, protrusion of eyeballs (exophthalmos),… read more here.
Keywords: supernumerary teeth; crouzon syndrome; multiple supernumerary; syndrome multiple ... See more keywords