Difficulties in classification of the short rib-polydactyly syndromes.
A case of "short rib-polydactyly" (SRP) syndrome (type II-Saldino-Noonan) with a detailed study of the bones, muscles and peripheral nerves in the extremities is presented. Analysis of the literature (35 cases with different forms of SRP) and the comparison of clinical, genetic and morphological data lead us to consider that different types of SRP may be related to different alleles of the same gene. Genetic heterogeneity (mutations of different genes) is also possible.
D000483:Alleles; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005313:Fetal Death; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008297:Male; D009154:Mutation; D011247:Pregnancy; D012272:Ribs / Q000002:abnormalities; D013577:Syndrome