Survival and dominant transmission of "lethal" platyspondylic dwarfism of the "West coast" types.
Torrance, San Diego, and Luton types ("West coast" types) of neonatal platyspondylic short-limbed dwarfism are suspected to be caused by dominant mutations that are obligatorily lethal. We report on an affected mother, who passed the disease to her daughter, confirming dominant disease transmission. Survival of the mother indicates a wider phenotypic spectrum.
Omran
H
H
University Children's Hospital, the Department of Radiology, and the Department of Human Genetics, University Freiburg, Freiburg, Germany.
Uhl
M
M
Brandis
M
M
Wolff
G
G
D004392:Dwarfism / Q000145:classification / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005804:Genes, Lethal; D006801:Humans; D007231:Infant, Newborn