Disease relevance of Langer-Giedion Syndrome

• The data obtained are useful for defining the location of the putative mental retardation gene(s) in TRPS1 and Langer-Giedion syndrome (TRPS2), as well as a locus for postaxial polydactyly [1].
• The manifestations of branchio-oto-renal syndrome (BOR), Treacher Collins syndrome, tricho-rhino-phalangeal syndrome, van der Woude syndrome, and Langer-Giedion syndrome are well-defined; these conditions represent clinically and genetically separate syndromes [2].
• Tetraparesis due to exostotic osteochondroma at upper cervical cord in a patient with multiple exostoses-mental retardation syndrome (Langer-Giedion syndrome) [3].
• A 22-year-old patient with type I trichorinophalangeal Langer-Giedion syndrome presented a stage 2 osteonecrosis of the lunate associated with congenital shortening of the ulna and carpal tunnel syndrome [4].
• The most striking examples are retinoblastoma, the WAGR complex, Beckwith-Wiedemann syndrome, Langer-Giedion syndrome, Prader-Willi syndrome, Miller-Dieker syndrome and others, which thus could be mapped to the genome [5].

High impact information on Langer-Giedion Syndrome

• In a majority of families, the genetic defect (EXT1) is linked to the Langer-Giedion syndrome chromosomal region in 8q24 [6].
• However, low expression of vimentin was also found in 3 LCL derived from patients with the Langer-Giedion syndrome, which is characterized by a deletion of the distal end of chromosome 8 [7].
• The Langer-Giedion syndrome (LGS), which is characterized by craniofacial dysmorphism and skeletal abnormalities, is caused by a genetic defect in 8q24 [8].
• The Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II, TRPS II) is characterized by craniofacial dysmorphism and skeletal abnormalities [9].
• HAS2 mapped outside the predicted critical region delineated for the Langer-Giedion syndrome and can thus be excluded as a candidate gene for this genetic syndrome [10].

Chemical compound and disease context of Langer-Giedion Syndrome

• Langer-Giedion syndrome associated with scimitar syndrome [11].

Biological context of Langer-Giedion Syndrome

• We have examined a restriction fragment length polymorphism at the thyroglobulin locus in a patient with Langer-Giedion syndrome and 8q deletion in order to: (1) localize the Langer-Giedion deletion more precisely, (2) define the relative map positions of the thyroglobulin gene and the Langer-Giedion locus [12].

Anatomical context of Langer-Giedion Syndrome

• Individuals with Langer-Giedion syndrome (also known as trichorhinophalangeal syndrome Type II) exhibit several skeletal abnormalities, including multiple exostoses and cone-shaped epiphyses of the hands and feet [13].

Gene context of Langer-Giedion Syndrome

• The results indicated that BMP1 is not responsible for Langer-Giedion syndrome, whose putative gene has been assigned to 8q24 [14].
• Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency [15].
• The tricho-rhino-phalangeal syndromes type I (TRPS I) and type II (TRPS II) result from the deletion of overlapping sets of genes within the Langer-Giedion syndrome chromosomal region (LGCR) on chromosome 8 [16].
• Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome) [17]?
• We report on a girl with Langer-Giedion syndrome or tricho-rhino-phalangeal syndrome, type II (TRPS II) with deletion on 8q, and the unusual findings of bilateral tibial hemimelia and unilateral absence of the ulna [18].

Analytical, diagnostic and therapeutic context of Langer-Giedion Syndrome

• We review the clinical alterations of trichorhinophalangeal syndromes and differential diagnosis of Langer-Giedion syndrome from trichorhinophalangeal syndrome type I and hereditary multiple exostoses [19].

References