Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus

Citation
R. Becker et al., Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus, CLIN GENET, 57(2), 2000, pp. 148-150
Citations number
7
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
CLINICAL GENETICS
ISSN journal
0009-9163 → ACNP
Volume
57
Issue
2
Year of publication
2000
Pages
148 - 150
Database
ISI
SICI code
0009-9163(200002)57:2<148:CVOLSD>2.0.ZU;2-A
Abstract
Larsen syndrome shows a broad spectrum of clinical manifestation ranging fr om a lethal form of the disorder to a mild clinical expression with absence of major diagnostic features. Here we show that even intrafamilial manifes tation may vary extremely to the point that Larsen syndrome in a father has been diagnosed only by typical sonographic features in an affected fetus.