Mb. Irons et al., POSSIBLE NEW AUTOSOMAL RECESSIVE SYNDROME OF LYMPHEDEMA, HYDROCELES, ATRIAL SEPTAL-DEFECT, AND CHARACTERISTIC FACIAL CHANGES, American journal of medical genetics, 66(1), 1996, pp. 69-71
We describe two brothers with congenital lymphedema of lower limbs, at
rial septal defect (ASD), and similar facial appearance. A sister had
severe hydrops fetalis, ASD, omphalocele, and other anomalies. This co
mbination of congenital lymphedema and ASD differs from other reported
cases of congenital lymphedema and most likely constitutes a previous
ly unrecognized autosomal recessive syndrome. (C) 1996 Wiley-Liss, Inc
.