Thoracic-pelvic dysostosis: a 'new' autosomal dominant form.
A form of thoracic and pelvic dysostosis is reported in a mother and her son. The short ribs caused respiratory distress in the baby and raised the possibility of asphyxiating thoracic dystrophy (ATD). The radiological features, however, distinguish this benign condition from ATD and other described skeletal dysplasias.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010384:Pelvic Bones / Q000002:abnormalities*; D010641:Phenotype; D012272:Ribs / Q000002:abnormalities*; D013577:Syndrome