Global InformationGerodermia osteodysplastica information
| Gerodermia osteodysplastica | |
|---|---|
| Other names | Geroderma osteodysplasticum and Walt Disney dwarfism[1] |
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| Gerodermia osteodysplastica has an autosomal recessive pattern of inheritance. | |
| Specialty | Medical genetics  |
Gerodermia osteodysplastica (GO) is a rare autosomal recessive[2] connective tissue disorder included in the spectrum of cutis laxa syndromes.[2][3]
Usage of the name "Walt Disney dwarfism" is attributed to the first known case of the disorder, documented in a 1950 journal report, in which the authors described five affected members from a Swiss family as having the physical appearance of dwarves from a Walt Disney film.[4][5]
The terms "geroderma" or "gerodermia" can be used interchangeably with "osteodysplastica" or "osteodysplasticum", with the term "hereditaria" sometimes appearing at the end.[1][6]
- ^ a b Online Mendelian Inheritance in Man (OMIM): 231070
- ^ a b Paul R, Kapoor S, Puri R, Bijarnia S (Dec 2004). "Gerodermia Osteodysplastica". Indian J. Pediatr. 71 (12): e77–79. PMID 15630332.
- ^ Nappi C, Greco E, Anichini C, Guerra G, Di Spiezio Sardo A (Jan 2008). "Pregnancy in a gerodermia ostedysplastica patient: a case report". Am. J. Obstet. Gynecol. 198 (1): e17–19. doi:10.1016/j.ajog.2007.09.037. PMID 18166294.
- ^ Bamatter F, Franceschetti A, Klein D, Sierro A (1950). "Gerodermie osteodysplastique hereditaire". Annales Paediatrici. 174 (4): 126–127. doi:10.1177/0011128707308160. S2CID 140963177.
- ^ Hunter AG, Martsolf JT, Baker CG, Reed MH (Feb 1978). "Geroderma osteodysplastica. A report on two affected families". Hum. Genet. 40 (3): 311–324. doi:10.1007/BF00272192. PMID 631850. S2CID 19438949.
- ^ Rajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nürnberg P, Mundlos S (Apr 2008). "Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman". Am. J. Med. Genet. A. 146A (8): 965–976. doi:10.1002/ajmg.a.32143. PMID 18348262. S2CID 25583401.