By Basil John Zitelli, Holly W. Davis
Your top resource for assistance at the visible prognosis of pediatric problems now involves you in print and on-line! greater than 3,400 hundred illustrations-3,000 in complete color-capture the total diversity of gross anatomic symptoms in addition to laboratory and radiologic findings for countless numbers of pediatric disorders.Addresses the whole spectrum of pediatric conditions-from pertinent old components and exam suggestions to visible and diagnostic methods-providing you with finished assurance in your hardest diagnostic challenges.Features greater than 3,400 useful, scientific images that will help you determine and diagnose hundreds of thousands of pediatric disorders.Features new, accomplished insurance of malnutrition, weight problems, and trauma that can assist you establish quite a lot of conditions.Includes accelerated info on baby abuse and overlook so that you can greater realize and deal with the symptoms of this delicate condition.Presents new insurance within the Genetic issues and Dysmorphic stipulations bankruptcy to help you in diagnosing metabolic illnesses extra accurately.Offers on-line entry to the whole searchable contents of the e-book for fast solutions to medical questions.Provides on-line downloadable pictures from the ebook that let you create your personal digital shows.
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Extra resources for Atlas of Pediatric Physical Diagnosis, 5th Edition
The diagnosis of fetal alcohol syndrome should be reserved for those infants who have a history of in utero exposure to large amounts of alcohol and who have the characteristic physical features of the disorder. The past practice of labeling children with developmental disorders who do not have the clinical stigmata as having fetal alcohol effects should be abandoned. Although there may be no absolutely safe level of maternal alcohol consumption throughout pregnancy (particularly in the ﬁrst trimester), the risk of teratogenesis increases dramatically with increasing degrees of maternal ethanol consumption.
Also note his long arms. Figure 1-29. Beals syndrome variant. This child was found to have an abnormality of ﬁbrillin 2 secretion in ﬁbroblasts. A, She was tall and had arachnodactyly with contractures. B, Her broad forehead and hypertelorism are physical features that help distinguish her case from classic Beals syndrome and Marfan syndrome. indd 22 5/21/2007 3:01:52 PM Chapter 1—Genetic Disorders and Dysmorphic Conditions 23 Table 1-7 Classiﬁcation of Types of Ehlers-Danlos Syndrome TYPE FORMER TYPE MODE OF INHERITANCE APPROXIMATE INCIDENCE Classical I & II AD 1/20-40,000 Hypermobility Vascular III IV AD AD 1/10-15,000 1/100-200,000 Kyphoscoliotic VI AD Rare Arthrochalasia VII A & B AD Very rare Dermatosparaxis VI C AR Very rare A C UNDERLYING ABNORMALITY Abnormal electrophoretic mobility of pro α-1 & 2 chains of type V collagen No speciﬁc biochemical defect identiﬁed Mutation in COL3A1 gene resulting in structurally abnormal pro α-1 chain of type III collagen, posttranslational overmodiﬁcation, thermal instability, or increased sensitivity to proteases Deﬁciency of the collagen-modifying enzyme lysylhydroxylase Mutations resulting in deﬁcient processing of amino-terminal ends of pro α-1 or 2 chains of type I collagen Deﬁciency of pro collagen 1 amino-terminal peptidase B D Figure 1-30.
Mutations of imprinting control center genes (3% of cases). 5. Mutations of the ubiquitin-protein ligase gene (UBE3A) (11% of cases). 6. Classic phenotype, with no identiﬁable etiologic mechanisms but a positive family history of other affected individuals (11% of cases). Note: 4, 5, and 6 account for approximately 25% of cases of Angelman syndrome cases. Because of etiologic variability and complexity of the diagnostic process, families of children suspected of having either of these disorders should be referred for genetic evaluation and diagnostic testing to ensure the most accurate determination of etiologic mechanism, and therefore, of recurrence risk.