Publication: Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications
Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications
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Schinzel, A., Riegel, M., Baumer, A., Superti-Furga, A., Moreira, L. M. A., Santo, L. D. E., Schiper, P. P., Carvalho, J. H. D., & Giedion, A. (2013). Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications. American Journal of Medical Genetics. Part A, 161(9), 2216–2225. https://doi.org/10.1002/ajmg.a.36062
Abstract
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Long-term observations of individuals with the so-called Langer-Giedion (LGS) or tricho-rhino-phalangeal type II (TRPS2) are scarce. We report here a on follow-up of four LGS individuals, including one first described by Andres Giedion in 1969, and review the sparse publications on adults with this syndrome which comprises ectodermal dysplasia, multiple cone-shaped epiphyses prior to puberty, multiple cartilaginous exostoses, and mostly mild intellectual impairment. LGS is caused by deletion of the chromosomal segment 8q24.11-q24.13 c
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- Schinzel, Albert
- Riegel, Mariluce
- Baumer, Alessandra
- Superti-Furga, Andrea
- Moreira, Lilia M A
- Santo, Layla D E
- Schiper, Patricia P
- Carvalho, José Henrique Dantas
- Giedion, Andres
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Schinzel, A., Riegel, M., Baumer, A., Superti-Furga, A., Moreira, L. M. A., Santo, L. D. E., Schiper, P. P., Carvalho, J. H. D., & Giedion, A. (2013). Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications. American Journal of Medical Genetics. Part A, 161(9), 2216–2225. https://doi.org/10.1002/ajmg.a.36062
