Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome?

We report on concordantly affected female identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E. The most similar condition reported is the syndrome described by Fitzsimmons and Guilbert in uniovular twins characterized by progressive spastic p...

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Bibliographic Details
Published in:	American journal of medical genetics Vol. 84; no. 2; pp. 90 - 93
Main Authors:	Lacassie, Yves, Arriaza, Marta I., Duncan, M. Caroline, Dijamco, Cristino, McElveen, Catherine, Stahls III, Paul F.
Format:	Journal Article
Language:	English
Published:	New York Wiley Subscription Services, Inc., A Wiley Company 21-05-1999 Wiley-Liss
Subjects:	Abnormalities, Multiple - diagnosis Biological and medical sciences brachydactyly Complex syndromes Diseases in Twins - diagnosis dysarthria Dysarthria - diagnosis Female Fitzsimmons-Guilbert syndrome Foot Deformities, Congenital - diagnosis Hand Deformities, Congenital - diagnosis Humans Intellectual Disability - diagnosis Medical genetics Medical sciences mental retardation Middle Aged new syndrome progressive spastic paraplegia Spastic Paraplegia, Hereditary - diagnosis Syndrome twin Human Fitzsimmons Guilbert syndrome New syndrome Nervous system diseases Diseases of the osteoarticular system Spasticity Mental retardation Differential diagnostic Twin Case study Concomitant disease Paraplegia Phenotype Intellectual deficiency Genetics Complex syndrome Dysarthria Brachydactyly
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Summary:	We report on concordantly affected female identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E. The most similar condition reported is the syndrome described by Fitzsimmons and Guilbert in uniovular twins characterized by progressive spastic paraplegia, dysarthria, brachydactyly type E, and cone‐shaped epiphyses. During the last 11 years a report of only one other patient with this syndrome has been published; hence, its phenotypic delineation may be only partial. Although our patients might expand the phenotypic spectrum of this syndrome, they may represent a new disorder. Am. J. Med. Genet. 84:90–93, 1999. © 1999 Wiley‐Liss, Inc.
Bibliography:	Fazio-Lacalle family ArticleID:AJMG2 ark:/67375/WNG-M0FWND5T-W istex:602C9381C426DCD4AA0DFF855A0CBA5B67CE36B5 ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0148-7299 1096-8628
DOI:	10.1002/(SICI)1096-8628(19990521)84:2<90::AID-AJMG2>3.0.CO;2-8