骨軟骨発育不全症
WordNet
- abnormal development (of organs or cells) or an abnormal structure resulting from such growth
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
English Journal
- A novel CHST3 allele associated with Spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.
- Waryah AM1, Shahzad M2, Shaikh H1, Sheikh SA1, Channa NA3, Hufnagel RB4,5, Makhdoom A6, Riazuddin S2, Ahmed ZM2.
- Clinical genetics.Clin Genet.2015 Nov 17. doi: 10.1111/cge.12694. [Epub ahead of print]
- Skeletal dysplasias are highly heterogeneous disorders composed of 40 clinical sub-types that are part of 456 well-delineated syndromes in humans. Here, we enrolled consanguineous kindred from a remote area of Sindh province of Pakistan, with fourteen affected individuals suffering with short statur
- PMID 26572954
- Dyspnea, Dysphonia, and Cough: Varied Presentations of Tracheobronchopathia Osteochondroplastica.
- Nielsen SW1, Stevens JR2, Dion GR2, Howard NS2.
- The Annals of otology, rhinology, and laryngology.Ann Otol Rhinol Laryngol.2015 Oct;124(10):829-33. doi: 10.1177/0003489415586845. Epub 2015 May 12.
- OBJECTIVES: Tracheobronchopathia osteochondroplastica (TPO) is an uncommon, benign disease consisting of submucosal, osteocartilaginous nodules that project into the tracheal lumen. Far less commonly, these nodules can occur outside the tracheal cartilage. This case series discusses the wide range o
- PMID 25969572
- Spinal Cord Injury After Extremity Surgery in Children With Thoracic Kyphosis.
- Pruszczynski B1, Mackenzie WG, Rogers K, White KK.
- Clinical orthopaedics and related research.Clin Orthop Relat Res.2015 Oct;473(10):3315-20. doi: 10.1007/s11999-015-4437-0. Epub 2015 Aug 5.
- BACKGROUND: Spinal cord injury is a rare complication after lower extremity surgery in children with skeletal dysplasia and thoracic kyphosis. We encountered two patients who had this complication, from among 51 (39 from Nemours/Alfred I. duPont Hospital for Children and 12 from Seattle Children's H
- PMID 26242281
Japanese Journal
- Unusual spondyloepiphyseal and spondylometaphyseal dysplasias of childhood
Related Links
- Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. This condition affects the bones of the ...
- Spondyloepiphyseal dysplasia (SED) is a descriptive term for a group of disorders with primary involvement of the vertebrae and epiphyseal centers resulting in a short-trunk disproportionate dwarfism. Spondylo refers to ...
★リンクテーブル★
[★]