By Praveen Kumar, Barbara Burton
A concise, clinically-focused advisor to the assessment and administration of babies with congenital malformations four celebrity DOODY'S evaluation! "The presentation of malformations and syndromes during this effortless to take advantage of layout is really targeted. Pediatricians and others who're fascinated by the care of babies with malformations are frequently confronted with the duty of discovering a brief reference ahead of assembly with involved mom and dad. This e-book will frequently be utilized by clinicians comparing a baby with a standard malformation.... The tables that include the commonest linked syndromes with each one malformation are very important. So, with this publication at the shelf, any clinician may perhaps simply and fast tell themselves approximately universal malformations encountered in nurseries and NICUs everywhere in the world.--Doody's evaluation provider Congenital Malformations is a finished, useful textual content that highlights key views at the clinical administration of babies with malformations. With its handy system-based association and evidence-based process, this clinically-focused consultant is designed to optimize the usage of restricted diagnostic assets. Easy-to-follow algorithms and tables help you quickly determine and deal with the various assorted malformations that as a rule found in medical perform, resembling cleft lip, cardiac septal defects, and skeletal dysplasias. beneficial properties: Succinct, high-yield assurance allows effective evaluate of the most typical malformations Evidence-based orientation presents up to date, clinically correct diagnostic and remedy innovations which are in response to a meticulous evaluation of the medical literature constant templated layout offers 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 advisor (20081118)
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Extra resources for Congenital Malformations: Evidence-Based Evaluation and Management
Special mention should be made of the significance of minor anomalies, usually defined as dysmorphic features or unusual findings of minimal or no functional or cosmetic significance. Examples of minor anomalies are seen in Figs. 2-1 to 2-5. A single minor anomaly is found in approximately 14% of all newborns and is not associated with an increased risk of associated major Figure 2-1. Inner epicanthal folds, in this case in a patient with Down syndrome. CHAPTER 2 ASSESSMENT OF AN INFANT WITH A CONGENITAL MALFORMATION Figure 2-2.
3-4). With each pregnancy, affected females have a 25% risk of having an affected daughter, Figure 3-3. A typical pedigree of an X-linked dominant condition. 25% risk of having an unaffected daughter, 25% risk of having an unaffected son, and 25% risk of having an affected son. 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.
8,9 CHAPTER 2 ASSESSMENT OF AN INFANT WITH A CONGENITAL MALFORMATION 17 Figure 2-6. FISH (fluorescence in-situ hybridization) testing for the 22q11 syndrome. Negative test results showing a positive signal for the 22q11 probe and the control probe on both copies of the #22 chromosome. Figure 2-7. FISH (fluorescence in-situ hybridization) testing for the 22q11 syndrome. Positive test results showing a positive signal for the 22q11 probe and the control probe on one #22 chromosome but only a signal for the control probe on the other #22 chromosome.