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