Also found in: Dictionary, Thesaurus, Legal, Acronyms, Encyclopedia, Wikipedia.

Kenny-Caffey syndrome type 1

An autosomal recessive condition (OMIM:244460) characterised by marked growth retardation, craniofacial anomalies, small hands and feet, hypocalcaemia, hypoparathyroidism, radiologic evidence of cortical thickening of long bones with medullary stenosis, and absent diploic space in the skull; many die in infancy with hypocalcemic convulsions. It is similar to hypoparathyroidism-retardation-dysmorphism syndrome, with the additional findings of osteosclerosis and recurrent bacterial infections.

Molecular pathology
Caused by defects of TBCE, which encodes chaperone/cofactor E, a protein involved in ensuring that beta-tubulin is correctly folded.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
Mentioned in ?
References in periodicals archive ?
Overall prevalence was calculated by dividing the number of KCS cases by the number of included patients assessed, expressed as a percentage.
KCs were seeded into sterilized plastic dish and transfected under four experimental conditions: (1) LUS group, (2) L group, (3) siRNA-NC, and (4) Blank.
Additionally, KLK5 and KLK14 activate proteinase-activated receptor- (PAR-) 2, which is a G-protein-coupled receptor expressed on KCs, leading to the elicitation of itch common with AD [58].
KCS fully recognizes that diversity of perspective leads to more innovation, better risk management, and stronger connections with customers, employees and business partners and this is embraced top down.
Level III evidence is available to support the efficacy of corticosteroid in KCS. But short term and long term therapy is associated with its hazards which sometimes outweigh the treatment16-18.
As already known, administration of clodronate-encapsulated liposomes deletes Kupffer cells (KCs) in vivo [15].
For monolayer culture, DP cells, labeled by RFP, and KCs were trypsinized, mixed in 1: 1 proportion, seeded in a 48-well plate (Corning) at a concentration of [10.sup.5] cells per well in DMEM medium (PanEko) containing 4 mM glutamine and 10% FBS, and cultured for three days.
KCS.net, an Avanade company, is a leading Microsoft Dynamics AX, CRM and SharePoint partner in Germany, Switzerland and Austria.
Martin Green, managing director of NVM, said: "Ian and the team's outlook has always been long-term - investing in the people and infrastructure to position KCS for continued growth and increased market share.
(KCS was decimated by the Mari Disaster -- Vasiliko power station is next door).
The validated mesh, boundary conditions, and solution techniques are employed to calculate KCS hull resistance values at design draft 0.3418 m in different trim conditions.
Isolation and Culture of KCs. The animals were anesthetized using sodium pentobarbital and placed on a plastic tray, to which their limbs were pinned to keep them as straight as possible.