limb/pelvis-hypoplasia/aplasia syndrome

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limb/pelvis-hypoplasia/aplasia syndrome

A syndrome (OMIM:276820) characterised by limb defects due to hypo- or aplasia of one or more long bones; pelvic defects with hip dislocation, hypoplastic iliac bone and aplastic pubic bones; and variable thoracic deformity, unusual facies and genitourinary anomalies.

Molecular pathology
Defects in WNT7A, which encodes a signalling molecule for müllerian duct development, cause limb/pelvis-hypoplasia/aplasia syndrome.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
On average, LPHAs had 4.8 confirmed cases over the 2 weeks and 0.7 deleted cases.
Overall, 26.9 percent of LPHAs reported having a state-funded regional epidemiologist present in their agency, while 34.3 percent reported a dedicated communicable disease employee.
Using a survey of LPHAs, the effect of size, case mix, and other factors was investigated.
Although national programs such as NACCHO's Operational Definition of a Functional Health Department (NACCHO 2005), the National Profile of Local Public Health Departments (NACCHO 2010), and National Voluntary Accreditation (phaboard.org) laid the groundwork for our current understanding of the essential components and capabilities of a LPHA, governmental public health decision makers and professionals remain ill-informed about both the overall cost and the most economically efficient way to deliver essential population-based public health services.
Routine disease investigations are included in our analysis because they are the clear responsibility of the LPHA.
The marginal cost of monitoring and investigating these communicable diseases is hypothesized to be a function of the number of cases, the types of cases, LPHA characteristics, and county characteristics.
where C, is the marginal cost of the LPHA in county i, N represents the number of cases, LPHA represents LPHA specific characteristics (described below) while county characteristics represents the characteristics of the county where the LPHA operates.
where Cost, represents the cost of the LPHA in county i.
There are a number of LPHA specific factors that may affect the cost of communicable disease surveillance.
Finally, we controlled for the population density and poverty rate of the LPHA jurisdiction.
To calculate fixed costs, we took the indirect cost recovery rate the LPHA negotiated with the state health department, then multiplied the total agency personnel cost by the agency's indirect rate to calculate a total 2-week cost (fixed and variable costs).
We requested and received permission from each participating individual LPHA to access the data.