title: Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome.
abstract: The trichorhinophalangeal syndromes (TRPSs) are syndromes due to haploinsufficiency of genes in the chromosome 8q24.12 region. Type I TRPS is characterized by typical facial features including sparse, brittle and fine hair, bulbous nose, and a long philtrum, as well as skeletal abnormalities. Growth retardation is a feature frequently found in these patients, who commonly are of short stature; however, only one case with growth hormone deficiency has been described in a TRPS patient and that patient had type II TRPS. Skeletal morphological abnormalities have been studied, but investigation of bone metabolism and quality in this kind of patients are not available. In this report we describe two cases of type I TRPS with partial growth hormone deficiency and significant bone mass and quality impairment, which was unresponsive to GH treatment.
authors.affiliation: Pediatric Endocrinology Unit, University of Florence, A. Meyer Children's Hospital, Florence, Italy. stefano.stagi@yahoo.it
authors.forename: Stefano
authors.initials: S
authors.lastname: Stagi
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Bindi
authors.forename: Fiorella
authors.initials: F
authors.lastname: Galluzzi
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Lapi
authors.forename: Roberto
authors.initials: R
authors.lastname: Salti
authors.forename: Francesco
authors.initials: F
authors.lastname: Chiarelli
mesh_terms: D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D013006:Growth Hormone / Q000172:deficiency* / Q000627:therapeutic use; D020249:Hormone Replacement Therapy; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000188:drug therapy / Q000378:metabolism*; D011859:Radiography; D013577:Syndrome
chemical_list: D013006:Growth Hormone