Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes

American Journal of Medical Genetics
M B IronsI Bhan

Abstract

We describe two brothers with congenital lymphedema of lower limbs, atrial septal defect (ASD), and similar facial appearance. A sister had severe hydrops fetalis, ASD, omphalocele, and other anomalies. This combination of congenital lymphedema and ASD differs from other reported cases of congenital lymphedema and most likely constitutes a previously unrecognized autosomal recessive syndrome.

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Citations

Feb 4, 2005·American Journal of Medical Genetics. Part a·Peter WieackerRoberto Müller
Nov 3, 2010·La Presse médicale·Loïc Vaillant, Valérie Tauveron
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Jun 18, 2009·American Journal of Medical Genetics. Part a·Jeffrey J Levine, Susan Echiverri

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