TY - JOUR
T1 - New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects
AU - Gillessen-Kaesbach, G.
AU - Meinecke, P.
AU - Garrett, C.
AU - Padberg, B. C.
AU - Rehder, H.
AU - Passarge, E.
PY - 1993
Y1 - 1993
N2 - We report on 3 pairs of sibs from unrelated families, who present with polycystic kidneys Potter type I claimed to be specific for the ARPKD, and with microbrachycephaly, hypertelorism with telecanthus, large posteriorly angulated fleshy ears and various congenital malformations including congenital heart defects. We suggest that they represent a previously unrecognized autosomal recessive lethal developmental disorder within the group of infantile polycystic kidney disease and Potter sequence.
AB - We report on 3 pairs of sibs from unrelated families, who present with polycystic kidneys Potter type I claimed to be specific for the ARPKD, and with microbrachycephaly, hypertelorism with telecanthus, large posteriorly angulated fleshy ears and various congenital malformations including congenital heart defects. We suggest that they represent a previously unrecognized autosomal recessive lethal developmental disorder within the group of infantile polycystic kidney disease and Potter sequence.
UR - http://www.scopus.com/inward/record.url?scp=0027473527&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320450422
DO - 10.1002/ajmg.1320450422
M3 - Journal articles
C2 - 8465860
AN - SCOPUS:0027473527
SN - 0148-7299
VL - 45
SP - 511
EP - 518
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 4
ER -