New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects.
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.
Gillessen-Kaesbach
G
G
Institut für Humangenetik, Universitätsklinikum Essen, Germany.
Meinecke
P
P
Garrett
C
C
Padberg
B C
BC
Rehder
H
H
Passarge
E
E
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree; D017044:Polycystic Kidney, Autosomal Recessive / Q000235:genetics / Q000401:mortality / Q000473:pathology*