Download ZITELLI AND DAVIS,ATLAS OF Pediatric Physical Diagnosis,8th edition,2023
pdf Easily In Format For Free
PREFACE
In pediatrics, visual recognition of a variety of disorders is often the
key factor in diagnosis. Experienced clinicians who have seen a wide
spectrum of disorders carry a wealth of information for diagnosis
and teaching. Despite the increased reliance on technology to make a
diagnosis, history and physical examination remain the foundations
of clinical assessment of the patient. The Atlas of Pediatric Physical
Diagnosis was created to enhance the clinical experience of students,
residents, nurses, and all practitioners who care for children.
We have been very pleased with the reception of the first seven
editions of the Atlas but frequently hear readers requesting new and
updated information. Every chapter in the eighth edition has been
reviewed, revised, and updated with the latest information. This edition also marks the first for our new co-editor, Dr. Jessica Garrison.
Our new and returning chapter authors have provided greater depth
and dimension while some sections have been extensively rewritten. New photographs and diagnostic images have been included
in many chapters, and, where possible, we have cross-referenced
common topics for readers to explore. Topical additions, such as
COVID-19 infections in the Infectious Diseases chapter, represent
our commitment to keeping the Atlas relevant to our changing clinical practice.
The Atlas is by no means encyclopedic but rather presents an
overview of clinical disorders that lend themselves to visual diagnosis. We have attempted to select disorders that are common or
important and, when relevant, to describe the spectrum of clinical
findings. The accompanying text deliberately emphasizes pertinent
historical factors, examination techniques, visual findings, and diagnostic methods rather than therapy. We firmly believe that a careful
history and physical examination are the best tools the clinician has
for diagnosis and treatment. It is our hope that the eighth edition of
the Atlas of Pediatric Physical Diagnosis continues to serve as a useful
and practical reference for anyone who cares for children.
:CONTENTS
13 INFECTIOUS DISEASES
13.1 Kernig and Brudzinski Signs
16 NEUROLOGY
16.1 Athetosis
16.2 Breath Holding Spell
16.3 Dystonia
16.4 Hemifacial Spasms
16.5 Childhood Onset Shuddering Attacks
16.6 Rett Syndrome
16.7 Sydenham Chorea
16.8 Atonic Seizures
16.9 Extensor Infantile Spasms
16.10 Gelastic Seizures
16.11 Generalized Tonic-Clonic Seizures
16.12 Juvenile Myoclonic Seizures
16.13 Non-epileptiform Seizure
16.14 Absence Seizure
16.15 Complex Partial Seizure With Secondary Generalization
16.16 Flexor Infantile Spasms
17 PULMONARY DISORDERS
17.1 Anterior Tracheal Compression
17.2 Bronchial Stenosis
17.3 Layngomalacia
17.4 Obstructive Apnea
17.5 Vocal Cord Dysfunction Paradoxical Movement
19 PEDIATRIC AND ADOLESCENT GYNECOLOGY
19.1 Urination Through Prolapsed Urethra
20 OPHTHALMOLOGY
20.1 Marcus Gunn Jaw Wink Phenomenon
24 OTOLARYNGOLOGY
24.1 Infected Preauricular Cyst
24.2 Choanal Atresia
24.3 Subglottic Stenosis
24.4 Submucous Cleft Palate
GENETIC DISORDERS 1
AND DYSMORPHIC
CONDITIONS
Suneeta Madan-Khetarpal | Georgianne Arnold | Damara Ortiz
The field of pediatric genetics and dysmorphology is complex,
interesting, and rapidly evolving. Our knowledge base is gleaned
from the careful observations of master clinicians and scientists who
recognized clinical characteristics and patterns of malformation in
individuals with genetic, teratogenic, developmental, and metabolic
problems. They have provided us with a framework for the investigation of patients from clinical and laboratory perspectives. In
addition to classic cytogenetics, molecular cytogenetics methods
have been increasingly incorporated in clinical settings and have
greatly assisted evaluation, enabling far greater understanding of the
molecular and physiologic basis of these disorders, and have greatly
increased the rate of diagnosis of children with genetic and metabolic
disorders. However, even with the availability of an ever-widening
array of confirmatory tests, clinical evaluation of patients remains
an essential component of the complete assessment of children and
adults with genetic diseases and dysmorphic conditions. This stems
from the fact that careful evaluation can substantially reduce the
number of differential diagnostic possibilities and, thereby, the number of diagnostic tests and the total expense.
Visual identification of dysmorphic features, baseline anthropometrics combined with serial measurements with recognition of
patterns of malformation and behavioral phenotypes, remains an
integral part of the diagnostic algorithm. As in pediatrics in general,
genetic disorders should be investigated on the basis of a careful history, with a family pedigree and a thorough physical examination
including evaluation for the presence of major and minor anomalies,
and thoughtful laboratory testing. This chapter is designed to present clinicians who care for children with background on the general principles of genetics and dysmorphology, as well as updated
information about important advances in our field. Although not
exhaustive, it provides a framework for the broad categories of
genetic diseases and discusses an approach to the evaluation of the
dysmorphic child. Definitions and examples of the types of disorders resulting in genetic and/or congenital anomalies in children
are described, including malformations, deformations, disruptions,
associations, and sequences. We include examples of disorders
inherited through classic mendelian inheritance patterns, including single-gene mutations, such as Marfan syndrome, or de Lange
syndrome, metabolic disorders such as phenylketonuria (PKU) or
Smith-Lemli-Opitz syndrome, as well as examples of nonmendelian
disorders, such as teratogenic exposures in utero and disruptions or
deformations of previously normal fetal structures. Etiologic mechanisms of diseases, such as imprinting abnormalities, expansions of
trinucleotide repeats in nuclear deoxyribonucleic acid (DNA), mitochondrial DNA, whole exome and genome sequencing, as well as the
fields of -omics (metabolomics, proteomics, etc.), are introduced. As
testing options grow, there is acknowledgement of the expanding
role of genotype to phenotype correlation and its importance in the
genomic era.
APPROACH TO THE EVALUATION OF A
DYSMORPHIC CHILD
Approximately 2% to 3% of liveborn infants have an observable
physical structural abnormality (major anomaly). This number rises
to about 4% to 5% by the time the child is old enough to attend
school. Structural differences can be determined to be either major
or minor in character
Major structural
anomalies have functional significance. Examples are polydactyly,
colobomas of the iris (see Chapter 20), meningomyelocele, and
cleft lip. Minor anomalies are usually of cosmetic importance only.
Examples are epicanthal folds of the eyes, single transverse palmar
creases, and supernumerary nipples. The incidence of isolated major
anomalies in the general newborn population is approximately 1%,
and the incidence of minor anomalies is approximately 14%. Both
are more common in premature newborns.
The probability of an infant having a major anomaly increases
with the number of minor anomalies found. Thus all children with
multiple minor anomalies warrant a careful clinical assessment in
order to find potentially significant occult major anomalies. Once an
anomaly is identified, assessing its significance begins with a determination of whether the anomaly in question is a single localized
error in morphogenesis or one component of a multiple malformation syndrome. An understanding of the pathophysiologic mechanisms that produce structural abnormalities or differences provides
an opportunity to define the types of structural abnormalities seen.
This also assists the process of identifying the etiology and arriving
at a specific diagnosis, which then can be useful in determining the
prognosis and estimating the risk of recurrence of a similar problem
in future pregnancies.
Definitions of the classifications of structural anomalies aid in
communication between clinicians and in the process of evaluation
and are summarized below:
1. Malformation: A malformation is an abnormality of embryonic
morphogenesis of tissue. It usually results from genetic, chromosomal, or teratogenic influences, but it can be of multifactorial
etiology. Malformations are divided into two main categories: (1)
those that constitute a single primary defect in development and
(2) those that represent a single component of a multiple malformation syndrome. A multiple malformation syndrome can be
defined as one having several observed structural defects in development involving multiple organ systems that share the same
known or presumed etiology. Malformations often require surgical intervention.
2. Deformation: A deformation represents an alteration (often
molding) of an intrinsically normal tissue caused by exposure to
unusual extrinsic forces. A classic example is clubfoot, which may
be the result of uterine constraint from crowding associated with
a multiple gestation. A more severe example is the compressed.
Comments
Post a Comment