Kosaki overgrowth syndrome
| Kosaki Overgrowth Syndrome | |
|---|---|
 | |
| Kosaki overgrowth syndrome is inherited in an autosomal dominant manner. |
Kosaki overgrowth syndrome is a rare syndrome caused by mutations in the PDGFRB gene.[1]
Presentation[edit]
The features of this syndrome affect the face, skin, brain and the body.[citation needed]
Face:
- downslanting palpebral fissures
- pointed chin
- prominent forehead
- proptosis
- thin upper lip
- wide nasal bridge
Skin:
- fragile
- hyperelastic
Brain:
- Low IQ
- Periventricular white matter lesions
Body:
The height, lower-segment, hand, and foot length are all greater than usual.
Genetics[edit]
No inheritance pattern has been described as these mutations appear to have arisen de novo. This syndrome is due to mutations in a single copy of the PDGFRB gene.[citation needed]
Treatment[edit]
![[icon]](/wiki/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (February 2018) |
History[edit]
This condition was first described in Japan in 2011 by Watanabe et al.[2] These authors thought the condition was the Shprintzen-Goldberg syndrome but the patient lacked a mutation in the SKI gene. A second case was described by Takenouchi et al in 2015.[3] These authors recognised that this condition was novel and on performing a whole genome sequencing found mutations in the PDGFRB gene. A further 24 cases were reported in 2017 by Gawliński et al.[4]
References[edit]
- ^ "OMIM Entry - # 616592 - Kosaki Overgrowth Syndrome; KOGS". omim.org. Retrieved 11 February 2018.
- ^ Watanabe K, Okada E, Kosaki K, Tsuji T, Ishii K, Nakamura M, Chiba, K, Toyama Y, Matsumoto M (2011) Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome. J Pediat Orthop 31: 186-193
- ^ Takenouchi T, Yamaguchi Y, Tanikawa A, Kosaki R, Okano H, Kosaki, K (2015) Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation. J Pediat 166: 483-486
- ^ Gawliński P, Pelc M, Ciara E, Jhangiani S, Jurkiewicz E, Gambin T, Różdżyńska-Świątkowska A, Dawidziuk M, Akdemir ZHC, Guilbride DL, Muzny D, Lupski JR, Krajewska-Walasek M (2017) Phenotype expansion and development in Kosaki Overgrowth Syndrome. Clin Genet doi: 10.1111/cge.13192
External links[edit]
