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J Pediatr. 2000 Mar;136(3):411-3.

Survival and dominant transmission of "lethal" platyspondylic dwarfism of the "West coast" types.

Author information

1
University Children's Hospital, the Department of Radiology, and the Department of Human Genetics, University Freiburg, Freiburg, Germany.

Abstract

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.

PMID:
10700704
DOI:
10.1067/mpd.2000.103443
[Indexed for MEDLINE]

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