Possible new autosomal recessive syndrome of congenital lymphoedema, nail dystrophy and esotropia in a Saudi family

Authors
Fatinni, Y Asindi, A Al Falki, Y Al Harthi, A Al Fifi, S Al-Daama, S
Citation
Y. Fatinni et al., Possible new autosomal recessive syndrome of congenital lymphoedema, nail dystrophy and esotropia in a Saudi family, ACT PAEDIAT, 90(2), 2001, pp. 151-153
Citations number
11
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
ACTA PAEDIATRICA
ISSN journal
08035253 → ACNP
Volume
90
Issue
2
Year of publication
2001
Pages
151 - 153
Database
ISI
SICI code
0803-5253(200102)90:2<151:PNARSO>2.0.ZU;2-P
Abstract
This paper presents a family case of two brothers and two sisters with cong enital lower limb lymphoedema, nail dystrophy, and with esotropia in two of them. They are offspring of healthy parents who are first cousins. This co mbination of congenital lymphoedema, nail dystrophy and esotropia in this s ibship differs from other reported cases of congenital lymphoedema and most likely constitutes a previously unrecognized autosomal recessive syndrome.