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

✍ Scribed by Irons, Mira B.; Bianchi, Diana W.; Geggel, Robert L.; Marx, Gerald R.; Bhan, Ina

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 332 KB
• Volume: 66
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19961202)66:1<69::aid-ajmg15>3.0.co;2-o

✦ Synopsis

W e 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. @I