title: Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes.
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.
authors.affiliation: Department of Pediatrics, Floating Hospital for Children, New England Medical Center, Boston, Massachusetts, USA.
authors.forename: M B
authors.initials: MB
authors.lastname: Irons
authors.forename: D W
authors.initials: DW
authors.lastname: Bianchi
authors.forename: R L
authors.initials: RL
authors.lastname: Geggel
authors.forename: G R
authors.initials: GR
authors.lastname: Marx
authors.forename: I
authors.initials: I
authors.lastname: Bhan
mesh_terms: 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