title: Tibial hemimelia in Langer-Giedion syndrome with 8q23.1-q24.12 interstitial deletion.
abstract: Langer-Giedion syndrome (LGS) (OMIM 150230) is defined as a contiguous gene syndrome caused by loss of functional copies of the TRPS1 and EXT1 genes usually secondary to 8q microdeletion. Tibial hemimelia (TH) is the least common lower limb deficiency characterized by hypoplasia of the tibia with relatively intact fibula. We describe the third report of LGS with bilateral TH and an 8q23.1-q24.12 interstitial deletion. It is not possible to exclude that this association is fortuitous, but our report reinforces the suggestion of a putative gene involved in limb development in this chromosomal region interval.
authors.affiliation: Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia, DF, Brazil. danielcarvalho@sarah.br
authors.forename: Daniel Rocha
authors.initials: DR
authors.lastname: Carvalho
authors.forename: Savana Camilla Lima
authors.initials: SC
authors.lastname: Santos
authors.forename: Maria Dulce Valverde
authors.initials: MD
authors.lastname: Oliveira
authors.forename: Carlos Eduardo
authors.initials: CE
authors.lastname: Speck-Martins
mesh_terms: D059786:Abnormal Karyotype; D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D004480:Ectromelia / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000235:genetics* / Q000473:pathology; D008297:Male; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics; D011859:Radiography; D012097:Repressor Proteins; D013977:Tibia / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics; D000099058:Exostosin 1
chemical_list: D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors; D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1