Biomedical subjects

P L Bender

Publications and source records attributed to P L Bender.

3 recordsLinked to original sources

PubMed2000

Genetics of cleft lip and palate.

Cleft lip with or without cleft palate (CL/CP) is one of the most common structural birth defects, with treatment including multiple surgeries, speech therapy, and dental and orthodontic treatments over the first 18 years of life. As a result of the treatment interventions, pediatric nurses may be required to care for these children beginning in infancy through adolescence. Providing care for these patients and families can include educating patients and parents about the genetics of CL/CP, as well as meeting their immediate medical needs. A basic overview of normal lip and palate development, classification of clefts, pathophysiology of CL/CP, incidence, inheritance, genetic and environmental causes, genetic counseling, prenatal diagnosis, fetal surgery, and nursing implications is provided to educate pediatric nurses about the basics of the genetics of CL/CP.

Cleft Lip↗

PubMed1999

Beyond Pierre Robin sequence.

The label Pierre Robin sequence is given to infants presenting with a triad of specific congenital anomalies: micrognathia, glossoptosis, and cleft palate. However, this label should be considered the first, not the final, step in the diagnostic process. In approximately 80 percent of newborns with Pierre Robin sequence, the triad of anomalies is part of an underlying genetic condition. This article reviews the variable etiologies of and general clinical considerations for Pierre Robin sequence. To illustrate how clinical management might vary based on the identification of an underlying condition, three case examples of neonates with Pierre Robin sequence and different underlying genetic conditions are presented.

Female↗

PubMed1998

Genetic family history assessment.

The purpose of this article is to familiarize nurses with why, how, when, and where a genetic family history assessment should be used in clinical practice. Pedigrees are diagrams that display the relationship among family members by using a combination of symbols and lines. They are used to record concisely a complete family history to identify the risk of transmitting inherited condition, to identify people at risk for development of adult-onset conditions, to aid in clinical diagnosis, and to serve as a reference for social and biologic relationships. A detailed explanation of the standardized pedigree nomenclature that was recommended by the Pedigree Standardization Task Force in 1995 is included. Step-by-step guidelines on taking a genetic family history and drawing pedigrees are provided. A case study is also included to illustrate pedigree construction.

Adult↗