Literature DB >> 175395

A syndrome of widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness (the Singleton-Merten syndrome).

B B Gay, J P Kuhn.   

Abstract

Two patients with clinical and radiological features similar to those of Singleton and Merten's patients are described. These patients exhibit features of a unique clinical syndrome of unknown etiology: generalized muscular weakness with secondary hip and foot deformities, progressive calcification of the thoracic aorta beginning in childhood, calcific aortic stenosis leading to heart failure, dysplasia of the teeth, poor physical development, osteoporosis, expanded medullary cavities of the metacarpal and metatarsal bones, and chronic psoriaform skin lesions.

Entities:  

Mesh:

Year:  1976        PMID: 175395     DOI: 10.1148/118.2.389

Source DB:  PubMed          Journal:  Radiology        ISSN: 0033-8419            Impact factor:   11.105


  7 in total

1.  Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.

Authors:  Mi-Ae Jang; Eun Kyoung Kim; Hesung Now; Nhung T H Nguyen; Woo-Jong Kim; Joo-Yeon Yoo; Jinhyuk Lee; Yun-Mi Jeong; Cheol-Hee Kim; Ok-Hwa Kim; Seongsoo Sohn; Seong-Hyeuk Nam; Yoojin Hong; Yong Seok Lee; Sung-A Chang; Shin Yi Jang; Jong-Won Kim; Myung-Shik Lee; So Young Lim; Ki-Sun Sung; Ki-Tae Park; Byoung Joon Kim; Joo-Heung Lee; Duk-Kyung Kim; Changwon Kee; Chang-Seok Ki
Journal:  Am J Hum Genet       Date:  2015-01-22       Impact factor: 11.025

Review 2.  MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.

Authors:  Insa Buers; Gillian I Rice; Yanick J Crow; Frank Rutsch
Journal:  J Interferon Cytokine Res       Date:  2017-05       Impact factor: 2.607

3.  DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation.

Authors:  Lev Prasov; Brenda L Bohnsack; Antonette S El Husny; Lam C Tsoi; Bin Guan; J Michelle Kahlenberg; Edmundo Almeida; Haitao Wang; Edward W Cowen; Adriana A De Jesus; Priyam Jani; Allison C Billi; Sayoko E Moroi; Rachael Wasikowski; Izabela Almeida; Luciana N Almeida; Fernando Kok; Sarah J Garnai; Shahzad I Mian; Marcus Y Chen; Blake M Warner; Carlos R Ferreira; Raphaela Goldbach-Mansky; Sun Hur; Brian P Brooks; Julia E Richards; Robert B Hufnagel; Johann E Gudjonsson
Journal:  J Med Genet       Date:  2021-01-25       Impact factor: 6.318

Review 4.  Type I interferonopathies--an expanding disease spectrum of immunodysregulation.

Authors:  Min Ae Lee-Kirsch; Christine Wolf; Stefanie Kretschmer; Axel Roers
Journal:  Semin Immunopathol       Date:  2015-05-22       Impact factor: 11.759

Review 5.  RIG-I-Like Receptor Signaling in Singleton-Merten Syndrome.

Authors:  Changming Lu; Mary MacDougall
Journal:  Front Genet       Date:  2017-09-12       Impact factor: 4.599

6.  Case Report: Aicardi-Goutières Syndrome and Singleton-Merten Syndrome Caused by a Gain-of-Function Mutation in IFIH1.

Authors:  Wei Xiao; Jie Feng; Hongyu Long; Bo Xiao; Zhaohui H Luo
Journal:  Front Genet       Date:  2021-05-13       Impact factor: 4.599

7.  Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report.

Authors:  Philip Broser; Ursula von Mengershausen; Katrin Heldt; Deborah Bartholdi; Dominique Braun; Christine Wolf; Min Ae Lee-Kirsch
Journal:  Pediatr Rheumatol Online J       Date:  2022-04-11       Impact factor: 3.054

  7 in total

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