Literature DB >> 1258892

Multiple lentigines syndrome. Case report and review of the literature.

D A Voron, H H Hatfield, R K Kalkhoff.   

Abstract

The multiple lentigines syndrome is reviewed and a new case is presented. The major features of this syndrome are lentigines and other cutaneous abnormalities, cardiac defects, meurologic defects, cephalofacila dysmorphism, shortness of stature, skeletal anomalies, genitourinary abnormalities, and a family history consistent with an autosomal dominant mode of inheritance. The multiple lentigines syndrome manifests markedly variable expressivity; no single finding is pathognomonic and few patients have all major features. We propose specific criteria for diagnosis.

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Year:  1976        PMID: 1258892     DOI: 10.1016/0002-9343(76)90764-6

Source DB:  PubMed          Journal:  Am J Med        ISSN: 0002-9343            Impact factor:   4.965


  35 in total

1.  Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).

Authors:  B D Coppin; I K Temple
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

2.  Noonan syndrome: clinical aspects and molecular pathogenesis.

Authors:  M Tartaglia; G Zampino; B D Gelb
Journal:  Mol Syndromol       Date:  2010-01-15

3.  Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

Authors:  Kamini Kalidas; Adam C Shaw; Andrew H Crosby; Ruth Newbury-Ecob; Lynn Greenhalgh; Isabel K Temple; Caroline Law; Amisha Patel; Michael A Patton; Steve Jeffery
Journal:  J Hum Genet       Date:  2004-12-10       Impact factor: 3.172

4.  A locus for familial generalized lentiginosis without systemic involvement maps to chromosome 4q21.1-q22.3.

Authors:  Qinghe Xing; Xiangdong Chen; Mingtai Wang; Wenjie Bai; Xin Peng; Rui Gao; Shengnan Wu; Xueqing Qian; Wei Qin; Jianjun Gao; Guoyin Feng; Lin He
Journal:  Hum Genet       Date:  2005-04-20       Impact factor: 4.132

5.  PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".

Authors:  M Cristina Digilio; Anna Sarkozy; Giuseppe Pacileo; Giuseppe Limongelli; Bruno Marino; Bruno Dallapiccola
Journal:  Eur J Pediatr       Date:  2006-05-30       Impact factor: 3.183

6.  Leopard syndrome: a report of five cases from one family in two generations.

Authors:  Fatima Begić; Husref Tahirović; Mediha Kardašević; Ingrid Kalev; Kai Muru
Journal:  Eur J Pediatr       Date:  2014-01-09       Impact factor: 3.183

7.  LEOPARD Syndrome: Clinical Features and Gene Mutations.

Authors:  E Martínez-Quintana; F Rodríguez-González
Journal:  Mol Syndromol       Date:  2012-08-29

8.  Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndrome.

Authors:  Giuseppe Limongelli; Giuseppe Pacileo; Maria Giovanna Russo; Anna Sarkozy; Maria Felicetti; Giovanni Di Salvo; Carmela Morelli; Paolo Calabrò; Dario Paladini; Bruno Marino; Bruno Dallapiccola; Raffaele Calabrò
Journal:  J Prenat Med       Date:  2008-04

9.  Premature cataracts associated with generalized lentigo.

Authors:  R O Howard
Journal:  Trans Am Ophthalmol Soc       Date:  1979

10.  Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

Authors:  Viviana Cordeddu; Elia Di Schiavi; Len A Pennacchio; Avi Ma'ayan; Anna Sarkozy; Valentina Fodale; Serena Cecchetti; Alessio Cardinale; Joel Martin; Wendy Schackwitz; Anna Lipzen; Giuseppe Zampino; Laura Mazzanti; Maria C Digilio; Simone Martinelli; Elisabetta Flex; Francesca Lepri; Deborah Bartholdi; Kerstin Kutsche; Giovanni B Ferrero; Cecilia Anichini; Angelo Selicorni; Cesare Rossi; Romano Tenconi; Martin Zenker; Daniela Merlo; Bruno Dallapiccola; Ravi Iyengar; Paolo Bazzicalupo; Bruce D Gelb; Marco Tartaglia
Journal:  Nat Genet       Date:  2009-08-16       Impact factor: 38.330

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