Congenital Malformations: Evidence-Based Evaluation and by Praveen Kumar, Barbara Burton

By Praveen Kumar, Barbara Burton

A concise, clinically-focused consultant to the overview and administration of babies with congenital malformations four famous person DOODY'S evaluate! "The presentation of malformations and syndromes during this effortless to take advantage of layout is really special. Pediatricians and others who're fascinated with the care of babies with malformations are usually confronted with the duty of discovering a short reference ahead of assembly with involved mom and dad. This ebook will usually be utilized by clinicians comparing a baby with a typical malformation.... The tables that include the most typical linked syndromes with every one malformation are very priceless. So, with this publication at the shelf, any clinician may well simply and speedy tell themselves approximately universal malformations encountered in nurseries and NICUs all around the world.--Doody's overview carrier Congenital Malformations is a complete, functional textual content that highlights key views at the scientific administration of babies with malformations. With its handy system-based association and evidence-based method, this clinically-focused consultant is designed to optimize the usage of restricted diagnostic assets. Easy-to-follow algorithms and tables enable you speedily determine and deal with the various diversified malformations that in general found in scientific perform, similar to cleft lip, cardiac septal defects, and skeletal dysplasias. good points: Succinct, high-yield insurance allows effective evaluate of the most typical malformations Evidence-based orientation offers updated, clinically appropriate diagnostic and remedy concepts which are in accordance with a meticulous overview of the medical literature constant templated layout can provide simply obtainable info on: Epidemiology/Etiology, scientific Presentation, linked Malformations and Syndromes, overview, administration and diagnosis, and Genetic counseling prepared via malformation instead of syndrome - for a transparent, easy-to-follow diagnostic consultant (20081118)

Show description

Read Online or Download Congenital Malformations: Evidence-Based Evaluation and Management PDF

Best pediatrics books

Global Strategy for Infant and Young Child Feeding

WHO and UNICEF together constructed this worldwide technique to concentration global awareness at the impression that feeding practices have at the dietary prestige, progress and improvement, wellbeing and fitness, and hence the very survival of babies and kids. the method is the results of a accomplished two-year participatory strategy.

Smith's Recognizable Patterns of Human Deformation, 3rd Edition

Smith's Recognizable styles of Human Deformation is the one ebook dedicated to the prognosis and administration of delivery defects as a result of mechanical forces in past due gestation. It equips you with the evidenced-based counsel you must intrude in a well timed and powerful demeanour to prevent long term adversarial secondary outcomes.

The Oxford Handbook of Infant, Child, and Adolescent Sleep and Behavior

Because the early twentieth century, parenting books, pediatricians, and different wellbeing and fitness care prone have distributed suggestions concerning kid's sleep that often concerned behavioral and academic methods. within the previous couple of many years, although, psychologists and different behavioral scientists and clinicians have gathered a serious physique of study and scientific strategies relating to developmental alterations in sleep, sleep hygiene options from infancy via early life, and behaviorally orientated therapy techniques for kids and teens.

Nelson Essentials of Pediatrics

The source of selection for pediatric residencies, clerkships, and tests, Nelson necessities of Pediatrics keeps to supply a targeted assessment of the center wisdom in pediatrics. Succinct, certain assurance of standard formative years progress and improvement, in addition to the prognosis, administration, and prevention of universal pediatric ailments and problems, make this an amazing clinical reference ebook for college students, pediatric citizens, nurse practitioners, and health care provider assistants.

Extra info for Congenital Malformations: Evidence-Based Evaluation and Management

Sample text

Numerous similar examples could be cited and are discussed in individual chapters of the book in the discussion of individual malformations. ᭤ LABORATORY EVALUATION Cytogenetic Testing Cytogenetic testing is indicated in any infant with multiple congenital anomalies suggestive of a specific chromosomal abnormality or in an infant with multiple abnormalities or neurologic dysfunction of undetermined etiology. Chromosome analysis is typically performed on peripheral blood but can also be performed on cultured skin fibroblasts or on bone marrow.

6 Sex-Linked Conditions Disorders that involve mutations in genes located on the X sex chromosome are referred to as X-linked disorders. They can be either dominant or recessive. Pedigrees of families with X-linked conditions can be distinguished from autosomal dominant or recessive conditions because transmission of the condition differs between males and females. Because normal males have one copy of the X chromosome and females have two copies, females undergo inactivation of one of their X chromosomes to maintain equal gene dosage between the sexes.

The affected male infant may be miscarried, stillborn, or expire shortly after birth. In X-linked recessive disorders, males who have a gene mutation express the disease state but females who have one gene mutation are generally carriers and may not manifest features of the disorder. Females who have mutations in both gene copies will be affected. The Figure 3-4. A typical pedigree of an X-linked lethal dominant condition. 26 PART I GENERAL CONSIDERATIONS Figure 3-5. A typical pedigree of an X-linked recessive condition.

Download PDF sample

Rated 4.55 of 5 – based on 6 votes