WordNet

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 成人における全身性硬化症（強皮症）の臨床症状の概要 overview of the clinical manifestations of systemic sclerosis scleroderma in adults
2. 成人における全身性硬化症（強皮症）の診断および鑑別診断 diagnosis and differential diagnosis of systemic sclerosis scleroderma in adults
3. 脂肪異栄養症症候群 lipodystrophic syndromes

Singleton-Merten syndrome: an autosomal dominant disorder with variable expression.

Feigenbaum A, Müller C, Yale C, Kleinheinz J, Jezewski P, Kehl HG, MacDougall M, Rutsch F, Hennekam RC.SourceDepartment of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada. asjfeigenbaum@gmail.com
American journal of medical genetics. Part A.Am J Med Genet A.2013 Feb;161A(2):360-70. doi: 10.1002/ajmg.a.35732. Epub 2013 Jan 15.
In 1973, Singleton and Merten described two females with abnormal dentition, unique radiographic changes especially of the hands, and severe calcification and intimal weakening of the aortic arch and valve. Since then three additional cases with similar features have been reported and the diagnosis
PMID 23322711

[Acro-osteolysis in a 4 year-old patient: clinical features of Hajdu-Cheney syndrome.]

Ventosa P, Gorina N, Balaguer Santamaria A, Riera L, Casals I.SourceServicio de Pediatría, Capio-Hospital General de Catalunya, Sant Cugat del Vallés, Barcelona, España. Electronic address: pau.rosquelles@gmail.com.
Anales de pediatria (Barcelona, Spain : 2003).An Pediatr (Barc).2013 Jan 23. pii: S1695-4033(12)00542-5. doi: 10.1016/j.anpedi.2012.11.025. [Epub ahead of print]
PMID 23352387