Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients.
In this report we present two unrelated patients with the postaxial dysostosis syndrome (Miller syndrome) and document further the phenotypic variability of the craniofacial stigmata and of the postaxial (and preaxial) upper and lower limb reduction anomalies.
Chrzanowska
K H
KH
Department of Human Genetics, Memorial Hospital, Warsaw, Poland.
Fryns
J P
JP
Krajewska-Walasek
M
M
Wisniewski
L
L
Van den Berghe
H
H
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D004413:Dysostoses / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*