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

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

Y Fatinni, A Asindi, Y Al Falki, A Al Harthi, S Al Fifi and S Al-Daama
Acta pædiatrica (Oslo), Vol.90(2), pp.151-153
02/2001
DOI: https://doi.org/10.1111/j.1651-2227.2001.tb00276.x
PMID: 11236043

Abstract

Child Chromosome Aberrations - genetics Chromosome Disorders Consanguinity Esotropia - complications Esotropia - congenital Esotropia - genetics Female Humans Lymphedema - complications Lymphedema - congenital Lymphedema - genetics Nails, Malformed Saudi Arabia
This paper presents a family case of two brothers and two sisters with congenital lower limb lymphoedema, nail dystrophy, and with esotropia in two of them. They are offspring of healthy parents who are first cousins. This combination of congenital lymphoedema, nail dystrophy and esotropia in this sibship differs from other reported cases of congenital lymphoedema and most likely constitutes a previously unrecognized autosomal recessive syndrome.

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