WordNet

abnormal development (of organs or cells) or an abnormal structure resulting from such growth

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1. 致死的骨格形成異常の出生前診断 prenatal diagnosis of the lethal skeletal dysplasias
2. 症候群をきたす免疫不全症 syndromic immunodeficiencies
3. 成人におけるてんかんの外科的治療 surgical treatment of epilepsy in adults
4. 腰部脊柱管狭窄症：病態生理、臨床的特徴、および診断 lumbar spinal stenosis pathophysiology clinical features and diagnosis
5. 軟骨毛髪形成不全症 cartilage hair hypoplasia

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

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