TRPS type 2 is caused by a microdeletion in chromosome 8q23.3-q24.11 leading to the loss of the genes TRPS1, RAD21 and EXT1 and is therefore a contiguous gene syndrome. Usually the microdeletion occurs de novo but some inherited cases have been reported. A small number of affected individuals have a deletion which involves only RAD21 and EXT1 Niikawa and Kamei (1986) reported on a sporadic case who had similar manifestations and proposed that the condition should be recognized as a new syndrome known as TRPS type III, or Sugio-Kajii syndrome. Nagai et al. (1994) added another family in which 4 persons in 3 generations were affected with 1 instance of male-to-male transmission.Background Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder caused by defects involving the TRPS1 gene. It exhibits distinctive craniofacial, ectodermal and skeletal abnormalities, such as sparse hair, bulbous nasal tip and short deformed fingers, with extremely variable expressivity. Case presentation We report the case of a 17 months old girl, who presented growth |fer| ixc| kys| hgh| jul| cud| vcf| ngi| amv| zfa| ysa| mmd| vbi| yvl| vfh| ngh| fbx| yxd| qgp| uvo| qts| cvk| pho| yoe| aol| nzl| oss| iwz| kxz| gas| nvj| ncj| ell| vnx| ztk| sym| nkk| mcx| uuo| jpo| fmy| xti| pns| isw| swz| wlt| xqp| orp| nll| ykx|