Chapter 38: Reports of Patients and Their Families

Felix Late in my pregnancy with Felix, a routine ultrasound showed that he had a rare but serious heart defect. The news was upsetting, but we learned that the defect (truncus arteriosus) could be repaired with surgery. Felix was born on August 13, 1998, after a complicated vaginal delivery. He was taken from us immediately, […]

Chapter 37: Immunodeficiency Syndromes

Introduction During the first year of life, the human immune system undergoes major maturational changes. While infants and toddlers are susceptible to physiological immune deficiencies due to the partial immaturity of their immune systems, this susceptibility decreases significantly by the time a child enters kindergarten. Pathological immune deficiency should be suspected if any of the […]

Chapter 36: Abnormal Head Size

Microcephaly Microcephaly is defined as a head circumference (occipitofrontal circumference [OFC]) less than two standard deviations below the mean for gender and age; it is found in 2.5% of the population. As there is a close link between brain and cranial growth, microcephaly may be a sign of abnormal brain development. Primary microcephaly reflects poor […]

Chapter 35: Growth Disturbances

Introduction In general, environmental and genetic factors influence linear and ponderal growth in a multifactorial manner, often making it difficult to separate one influence from another. However, there are many recognizable genetic disorders that affect these growth parameters. This chapter delineates the process of evaluating abnormal growth and focuses on selected mendelian and chromosomal disorders […]

Chapter 34: Miscarriage and Fetal Demise

Introduction The loss of an embryo, the demise of a fetus, or the occurrence of a stillbirth carries a diagnostic burden to the obstetrician, pathologist, and geneticist. Even greater is the burden to the parents, who mourn the death of their child, whether born or unborn. A miscarriage or spontaneous abortion is the unintended loss […]

Chapter 33: Infertility and Sterility

Introduction Sterility is defined as the inability of a couple to reproduce within a period of 1 year despite having frequent, unprotected intercourse. After successful conception, infertility is defined as the inability of a woman to carry a pregnancy to term and to give birth. In standard medical usage, however, the terms are frequently used […]

Chapter 32: Neoplastic Diseases

Leukemias and Lymphomas Scientific discoveries define typical chromosome abnormalities in the tumor cells of numerous leukemias and lymphomas. Moreover, specific cytogenetic abnormalities have been associated with morphologically and clinically distinct subsets of leukemias and lymphomas and often correlate with morphological, immunophenotypical, and clinical parameters. Chronic Myeloid Leukemia Chronic myeloid leukemia (CML) was the first malignant […]

Chapter 31: Neurological and Neuromuscular Disorders

Neurodegenerative Disorders of the Central Nervous System Neurodegenerative disorders are characterized by a progressive loss of structure and function of neurons. Among this large group of disorders are several that were already mentioned in Chapter 24 (neurometabolic disorders). In lysosomal storage diseases, for example, the accumulation of certain metabolites causes degeneration and premature loss of […]

Chapter 30: Auditory System

Introduction In the general population, the prevalence of hearing loss increases with age, from 1 in 1,000 at the time of birth to between 1 in 4 and 1 in 3 at the age of 65 years, reflecting the impact of genetics and the environment, as well as the interaction between an individual’s genetic predisposition […]

Chapter 29: Visual System

Congenital Defects of Color Vision Congenital defects of color vision are grouped into three major categories: Defects of red or green perception (Fig. 29.1) Figure 29.1.Ishihara Color Test for Red–Green Color Deficiencies. Persons with normal color vision see the number 26. (From Grehn, 2006.) Defects of blue–yellow perception Total color deficiency (achromatopsia) Also to be […]