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1

L, Hintz Raymond, and Rosenfeld Ron G, eds. Growth abnormalities. New York: Churchill Livingstone, 1987.

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2

R, Bierich Jürgen, Cacciari E, Raiti Salvatore 1934-, and International Symposium on "Growth Abnormalities" (1988 : Bologna, Italy), eds. Growth abnormalities. New York: Raven Press, 1989.

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3

Shimokawa, Hiroaki, ed. Coronary Vasomotion Abnormalities. Singapore: Springer Singapore, 2021. http://dx.doi.org/10.1007/978-981-15-7594-5.

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4

Endre, Czeizel. Multiple congenital abnormalities. Budapest: Akadémiai Kiadó, 1988.

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5

1947-, Kwan Chiu-Yin, ed. Membrane abnormalities in hypertension. Boca Raton, Fla: CRC Press, 1989.

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6

Drife, James O., and Dian Donnai, eds. Antenatal Diagnosis of Fetal Abnormalities. London: Springer London, 1991. http://dx.doi.org/10.1007/978-1-4471-1854-1.

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7

Harisios, Boudoulas, Toutouzas P. K, and Wooley Charles F, eds. Functional abnormalities of the aorta. Armonk, N.Y: Futura Pub., 1996.

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8

R, Sutherland Grant, ed. Chromosome abnormalities and genetic counseling. 2nd ed. New York: Oxford University Press, 1996.

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9

R, Sutherland Grant, ed. Chromosome abnormalities and genetic counseling. 3rd ed. New York: Oxford University Press, 2004.

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10

Ontario. Ministry of Agriculture and Food. Genetic abnormalities in beef cattle. Toronto, Ont: Ministry of Agriculture and Food, 1993.

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11

Manjili, Masoud H. Cytokines: Mechanisms, functions, and abnormalities. Hauppauge, N.Y: Nova Science Publisher's, 2011.

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12

R, Sutherland Grant, ed. Chromosome abnormalities and genetic counseling. New York: Oxford University Press, 1989.

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13

R, Sutherland Grant, and Shaffer Lisa G, eds. Chromosome abnormalities and genetic counseling. 4th ed. Oxford: Oxford University Press, 2011.

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14

Kahn, Alice. Craniofacial anomalies: A beginner's guide for speech-language pathologists. San Diego: Singular Pub. Group, 2000.

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15

Bock, Gregory, and Jamie Goode, eds. Cortical Development: Genes and Genetic Abnormalities. Chichester, UK: John Wiley & Sons, Ltd, 2008. http://dx.doi.org/10.1002/9780470994030.

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16

Lee, Janet S., and Michael P. Donahoe, eds. Hematologic Abnormalities and Acute Lung Syndromes. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-41912-1.

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17

1936-, Sanders Roger C., and Blackmon Lillian R, eds. Structural fetal abnormalities: The total picture. 2nd ed. St. Louis: Mosby, 2002.

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18

1936-, Sanders Roger C., ed. Structural fetal abnormalities: The total picture. St. Louis: Mosby, 1996.

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19

N, Weingarten Cynthia, and Jefferson Sally E, eds. Sex chromosomes: Genetics, abnormalities, and disorders. Hauppauge, NY: Nova Science Publishers, 2009.

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20

Solar, Joseph. Abnormalities. Independently Published, 2017.

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21

Archer, Nick, and Nicky Manning. Structural abnormalities. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198766520.003.0009.

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22

Archer, Nick, and Nicky Manning. Miscellaneous abnormalities. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198766520.003.0014.

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23

Bhole, Malini. Neutrophil abnormalities. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0295.

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Neutrophils are an important component of the innate immune system, forming the first line of defence against bacterial invasion. Abnormalities in either neutrophil numbers or function lead to immunodeficiency disorders affecting the innate immune system, with a predisposition towards developing serious and often life-threatening infections. Alterations in neutrophil numbers and function may also be noted secondary to systemic diseases, where they may act as markers for ongoing disease processes. Most of the primary neutrophil disorders discussed in this chapter will present in childhood. In adults, acquired neutropenia is the commonest neutrophil abnormality encountered in clinical practice, although, rarely, some primary neutrophil defects may present.
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24

Hollak, Carla E. M. Skeletal Abnormalities. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0072.

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The skeleton is frequently involved in inborn error of metabolism as part of a chronic, multisystem disease. Several disorders in adulthood may present with skeletal symptoms as a first sign of an underlying metabolic disease. Examples are Gaucher disease, alkaptonuria, hypofosfatasia or hereditary hypophosphatemic rickets. In addition, secondary skeletal problems, specifically osteoporosis, is a frequent complication of a wide range of inborn errors of metabolism. The presence of additional symptoms, specific radiographical appearance and/or biochemical abnormalities can assist in making the appropriate diagnosis.
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25

Hollak, Carla E. M. Hematological Abnormalities. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0077.

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The respiratory system is frequently involved in inborn errors of metabolism, either primarily or secondary to severe systemic disease. In disorders with progressive neurological disease, recurrent chest infections are a result of aspiration. Patients with cachexia and muscle weakness can develop breathing difficulties. Metabolic acidosis causes tachypnea. These secondary problems, occurring in the context of a multisystem disease with prominent other features, are well covered elsewhere and are not discussed in this chapter. The focus of the current chapter is the adult patient who presents with respiratory symptoms or signs as a first manifestation of an inborn error of metabolism. In addition, disorders where respiratory problems are a major part of the adult disease spectrum are listed
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26

Winkler, Nicole S. Nipple Abnormalities. Edited by Christoph I. Lee, Constance D. Lehman, and Lawrence W. Bassett. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190270261.003.0045.

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New nipple retraction and new nipple inversion can be secondary to malignancy, post-surgical change, inflammation, or infection. Paget disease of the nipple is characterized by an inflammatory response of the nipple epidermis to malignant cells extending from ductal carcinoma in the lactiferous sinus. A mass arising within the nipple is rare and usually a variant of a papilloma arising in the nipple (nipple adenoma). This chapter, appearing in the section on nipple, skin, and lymph nodes, reviews the key clinical features, associated imaging findings, imaging protocols and pitfalls, differential diagnoses, and management recommendations for patients presenting with nipple retraction. Topics discussed include imaging features of nipple retraction, both benign and malignant causes of nipple retraction, Paget disease of the nipple, and masses occurring in the nipple.
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27

Archer, Nick, and Nicky Manning. Structural abnormalities. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199230709.003.0006.

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Introduction 70Classification of structural abnormalities 72This chapter gives an overview of how structural cardiac anomalies—which are then described in detail in the following chapters—have been grouped. The following points apply throughout: • It is essential to begin by establishing left and right sides of the fetus before going on to define the morphological features of each chamber and vessel and to demonstrate the cardiac connections (...
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28

Congenital abnormalities. Philadelphia: W.B. Saunders, 1993.

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29

Chai, Jianyuan, ed. Esophageal Abnormalities. InTech, 2017. http://dx.doi.org/10.5772/65143.

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30

Aşkın Çelik, Tülay, and Subrata Dey, eds. Chromosomal Abnormalities. IntechOpen, 2020. http://dx.doi.org/10.5772/intechopen.77904.

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31

Fetal Abnormalities. Elsevier Health Sciences, 2006.

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32

Celik, Tulay Askin. Chromosomal Abnormalities. Intechopen, 2020.

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33

Archer, Nick, and Nicky Manning. Left-sided abnormalities. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198766520.003.0010.

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This chapter explores left-sided abnormalities, discussing venoatrial abnormalities (including partial anomalous pulmonary venous drainage, total anomalous pulmonary venous drainage, and left-sided SVC), atrioventricular abnormalities (mitral atresia and mitral hypoplasia), ventriculoarterial abnormalities (including aortic stenosis, aortic atresia, and hypoplastic le. heart syndrome), and arterial abnormalities (coarctation of the aorta, interrupted aortic arch, right aortic arch, aberrant subclavian artery, double aortic arch, persistent fifth aortic arch, vascular rings, and aorto-pulmonary window).
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34

Archer, Nick, and Nicky Manning. Right-sided abnormalities. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198766520.003.0011.

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This chapter explores right-sided abnormalities, discussing the venoatrial junction (including both azygous/hemiazygous connections and abnormal systemic venous drainage), the atrioventricular junction (including tricuspid atresia and Ebstein’s anomaly/tricuspid valve dysplasia), and the ventriculoarterial junction (including pulmonary stenosis, pulmonary atresia with intact septum, tetralogy of Fallot, tetralogy of Fallot with absent pulmonary valve, pulmonary atresia with ventricular septal defect, and double outlet right ventricle), and arterial abnormalities.
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35

Delemarre-van de Waal, H. A., ed. Abnormalities in Puberty. S. Karger AG, 2005. http://dx.doi.org/10.1159/isbn.978-3-318-01178-4.

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36

Shimokawa, Hiroaki. Coronary Vasomotion Abnormalities. Springer Singapore Pte. Limited, 2021.

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37

Opticia and BH Opticia. Ocular Structures & Abnormalities. Butterworth-Heinemann, 2002.

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38

Shimokawa, Hiroaki. Coronary Vasomotion Abnormalities. Springer Singapore Pte. Limited, 2020.

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39

Cliff, Paul. A Constellation of Abnormalities. Puncher & Wattmann, 2017.

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40

Pilu, G., and K. H. Nicolaides. Diagnosis of Fetal Abnormalities. Taylor & Francis Group, 2019.

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41

Archer, Nick, and Nicky Manning. Abnormalities at a glance. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198766520.003.0015.

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This chapter explores abnormalities at a glance, including discussion on abnormal appearances of the cardiac chambers, abnormal appearances of the great arteries, abnormal cardiac position, abnormal cardiac axis, abnormalities of the three-vessel trachea view, and abnormal cardiac rhythms.
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42

Pilu, G., and K. H. Nicolaides, eds. Diagnosis of Fetal Abnormalities. CRC Press, 1999. http://dx.doi.org/10.1201/9780367805432.

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43

Archer, Nick, and Nicky Manning. Abnormalities at a glance. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199230709.003.0016.

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Introduction 232Abnormal appearances of the cardiac chambers 234Abnormal appearances of the great arteries 236Abnormal cardiac rhythms 238Abnormalities of cardiac position 240• Although defining a precise cardiac anomaly can be difficult, it is sometimes immediately obvious that there is something wrong with the cardiac anatomy or rhythm and that further assessment is needed....
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44

Kwan, Chiu-Yin. Membrane Abnormalities in Hypertension. Taylor & Francis Group, 2019.

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45

Chromosomal Abnormalities [Working Title]. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.95723.

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46

Pilu, Gianluigi, and Kypros Nicolaides, eds. Diagnosis of Fetal Abnormalities. CRC Press, 1999. http://dx.doi.org/10.1201/b14641.

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47

Kwan, Chiu-Yin. Membrane Abnormalities in Hypertension. Edited by Chiu-Yin Kwan. CRC Press, 2019. http://dx.doi.org/10.1201/9780429289446.

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48

Cuckow, Peter. Abnormalities of the bladder. Edited by David F. M. Thomas. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199659579.003.0120.

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Anatomical and functional reconstruction of the bladder exstrophy/epispadias complex of anomalies presents paediatric urologists with one of their greatest challenges. Nevertheless, very considerable advances have been made during the last 30 years. Children with classic bladder exstrophy now have an excellent prospect of becoming fully continent—either by primary reconstruction or with a catheterizeable stoma. Achieving continence and normal voiding in children with primary epispadias can be difficult because of the dysplastic nature of their sphincteric and bladder neck tissues. Urachal anomalies may present symptomatically in childhood or incidentally during ultrasound examination of the lower urinary tract. Small bladder diverticula which are secondary to outflow obstruction or bladder dysfunction tend to resolve following treatment of the underlying cause, whereas surgical excision is usually required for larger, symptomatic diverticula.
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49

Provan, Drew, Trevor Baglin, Inderjeet Dokal, and Johannes de Vos. White blood cell abnormalities. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199683307.003.0003.

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50

Provan, Drew, Trevor Baglin, Inderjeet Dokal, Johannes de Vos, and Angela Theodoulou. White blood cell abnormalities. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199683307.003.0003_update_001.

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