Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes.
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.
Irons
M B
MB
Department of Pediatrics, Floating Hospital for Children, New England Medical Center, Boston, Massachusetts, USA.
Bianchi
D W
DW
Geggel
R L
RL
Marx
G R
GR
Bhan
I
I
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D019066:Facies; D005808:Genes, Recessive; D006344:Heart Septal Defects, Atrial / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008209:Lymphedema / Q000151:congenital / Q000235:genetics; D008297:Male; D013577:Syndrome; D006848:Testicular Hydrocele / Q000151:congenital / Q000235:genetics