A young female with asymmetric manifestations of Larsen syndrome: another example of unilateral somatic cell-line mosaicism

Citation
Sgm. Frints et al., A young female with asymmetric manifestations of Larsen syndrome: another example of unilateral somatic cell-line mosaicism, CLIN DYSMOR, 9(4), 2000, pp. 273-276
Citations number
12
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
CLINICAL DYSMORPHOLOGY
ISSN journal
09628827 → ACNP
Volume
9
Issue
4
Year of publication
2000
Pages
273 - 276
Database
ISI
SICI code
0962-8827(200010)9:4<273:AYFWAM>2.0.ZU;2-6
Abstract
Larsen syndrome is characterized by multiple congenital joint dislocations, typical skeletal defects and facial dysmorphism. In this article, we prese nt a female patient with asymmetric Larsen syndrome. We hypothesise that th e asymmetric distribution of clinical features in our patient is likely cau sed by post-zygotic somatic cell-line mosaicism of a dominant gene mutation . Clin Dysmorphol 9: 273-276 (C) 2000 Lippincott Williams & Wilkins.