A new category of lethal short-limbed dwarfism.
We describe a first cousin marriage between Asians which resulted in 13 pregnancies; 4 of the offspring were normal, 5 were stillborn dwarves, 3 pregnancies resulted in miscarriage, and one was terminated for dwarfism detected prenatally. The radiology and histology are unique and the pedigree suggests autosomal recessive inheritance.
D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics* / Q000473:pathology; D005260:Female; D005804:Genes, Lethal; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D013796:Thanatophoric Dysplasia / Q000473:pathology