Kosaki overgrowth syndrome
Kosaki overgrowth syndrome is a rare syndrome caused by mutations in the PDGFRB gene.[1]
Clinical features[edit | edit source]
The features of this syndrome affect the face, skin, brain and the body.
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 | edit source]
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.
Diagnosis[edit | edit source]
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Treatment[edit | edit source]
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History[edit | edit source]
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 | edit source]
- ↑ "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 | edit source]
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