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HomeHealth articlescongenital abnormalitiesWhat Are Some of the Pathological Conditions Associated With Infants?

Pediatric Pathology

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5 min read


Most pediatric conditions are genetic disorders. Rest are rare abnormalities. Read the article below to learn more.

Medically reviewed by

Dr. Veerabhadrudu Kuncham

Published At October 7, 2022
Reviewed AtMarch 8, 2023


Pediatric diseases are conditions seen among the population from birth to 16 years of age. The very first year of infancy is more vulnerable to diseases. Therefore, crossing over the first year is a sigh of major relief. However, various diseases are associated with different age groups. It is alarming to witness a higher mortality rate among this age group.

What Are the Structural Deformities Seen in Newborn Babies?

Congenital anomalies are structural defects seen in infants at birth. About three percent of infants show a cosmetic or functional defect. On clinical examination, one can observe birth defects such as:

  • Polydactyly (extra digits).

  • Syndactyly (fusion of digits).

  • Amniotic bands seen in underdeveloped fingers.

  • Cleft lip caused due to trisomy 13.

  • Dysmorphogenesis has been seen in the brain and heart's mid-maldevelopment, causing mid-face structures' malformation.

  • Oligohydramnios is caused due to decreased amniotic fluid due to various reasons. Leakage of amniotic fluid or placental insufficiency. As a result, the infant develops flattened facial features and deformed feet.

  • Agenesis (complete absence of an organ).

  • Aplasia (incomplete development).

  • Hypoplasia (underdevelopment of an organ).

  • Conditions like atresia are the absence of an organ opening like that of a hollow visceral organ or duct such as the intestines.

What Are the Causes of Congenital Anomalies?

There are mainly three causes of birth defects:

  1. Genetic.

  2. Environmental.

  3. Unknown.

What Are Genetic Anomalies?

Genetic disorders are chromosomal abnormalities. Examples are Down syndrome, Turner syndrome, and Klinefelter syndrome. These are not familial. These conditions develop as a result of gametogenesis. Single gene mutations seen in mendelian disorder also cause malformations. Such as, mutation seen in sonic hedgehog homolog (SHH) causes holoprosencephaly. This causes underdevelopment of the forebrain and midface. Also, a single gene mutation was seen in PAX6, causing the absence of the iris (aniridia).

What Are the Environmental Factors Causing Genetic Disorder?

Environmental factors such as drugs, irradiation, and viral infections can cause anomalies. Viral infections such as rubella embryopathy can cause tetrad defects of congenital heart disease, cataracts, deafness, and mental retardation. Currently, there is a vaccination for maternal rubella virus and rubella syndromes.

Drugs of teratogenic nature constitute less than one percent of malformations. Some of the drugs are Warfarin (oral anticoagulant), Thalidomide, androgenic hormones, Folate, alcohol, anticonvulsants, and Nicotine. One of the commonly available and used drugs is alcohol which causes prenatal and postnatal growth retardation, facial anomaly (maxillary hypoplasia, microcephaly, and short palpebral fissures), and psychomotor disorders, collectively known as fetal alcohol syndrome.

Nicotine causes fetal abortions. Pregnant mothers with hyperglycemia cause diabetic embryopathy, causing cardiac anomalies, increased body fat, and poor immune system in infants. Most congenital conditions are idiopathic. Sudden infant death syndrome (SIDS): Also known as crib death or cot death. This is caused during the first year of infancy without any reason.

What Are the Infections Acquired Through Direct Mother's Blood?

Transplacental or hematological infections are pooled directly from a mother's blood to the fetus. Infections caused by Toxoplasma, Rubella virus, Cytomegalovirus, Herpes virus, and other microbes are together known under the acronym- TORCH. These agents cause fever, anemia, chorioretinitis, hepatosplenomegaly, pneumonia, congenital cytomegalovirus, syphilis, and encephalitis.

What Are Some of the Pathological Conditions Associated With Infants?

  • Necrotizing Enterocolitis (NEC): It causes a high morbidity and mortality rate in infants (premature infants). Bacterial colonization of the gut leading to mucosal bleeding and immature bowel is one of the aggravating factors.

  • Hemangiomas: It is one of the most common tumor occurrences seen in infants. They occur on the skin, scalp, and face and are elevated, irregular, and port wine stains. These occur at birth and regress as the child grows older.

  • Malignant Neoplasms: Like Wilms tumor, which is the cancer of the kidney. It is also known as nephroblastoma and is seen in kids from four to five years of age. This tumor is caused due to chromosomal errors like WT-1, which can be localized, as seen in chromosome 11. Other conditions like leukemia in children are caused due to proliferation of hematopoietic cells. This can be both an acute and chronic condition. The causes may vary from lack of bone marrow cell production to accumulation of malignant cells in tissues. Leukemia in children is the most common pediatric condition. Malignant conditions like retinoblastoma are seen due to deformity in the developing retina of the children. It occurs due to the mutation of the long arm of chromosome 13q14, which is a tumor suppressor gene, and conditions like teratomas that arise from germ cell layers or embryological cells are also observed.

  • Wilms Tumor: These tumors are associated with kidneys. Seen in two to five years of age group. It causes mental retardation, aniridia (complete or partial absence of color of the iris), and genital abnormalities. Many syndromes like WAGR syndrome, Denys- Drash syndrome, and Beckwith-Wiedemann syndrome give rise to Wilms tumor. Around five percent of this tumor is composed of anaplasia. Here, cells are large, hyperchromatic, pleomorphic nuclei, and abnormal mitoses are seen. On palpation, the tumor mass can be appreciated down the pelvis region. The prognosis is good. It can be treated with nephrectomy and chemotherapy.

What Are the Diagnostic Tools Used in Pediatric Diseases?

  • Histological Examination: During these studies, tissue biopsies are collected, paraffin-embedded, and further stained to study under a microscope. For example, the study of renal biopsies has shown many histopathological features like acute tubular necrosis, serum creatinine level of <1.2mg/dl, renal amyloidosis, and glomerulonephritis (GN), crescentic glomerulonephritis (Cres GN) and other variations.

  • Clinical and Radiographic Findings: In clinical evaluation, procedures like auscultation, percussion, pulse, and breathing per minute(BPM) are evaluated by the physician. Conditions like chest discomfort, pneumonia, foreign body aspiration, and cystic formation will require X-rays and other high diagnostic tests like CT and MRI.

  • Ancillary Studies: Like chromosome or cytogenetic analysis, immunoperoxidase stains, and electron microscopy.

  • Fluorescence in Situ Hybridization (Fish): This is used in chromosome-specific sequences labeled with fluorescent dyes. Samples can be obtained from biopsies, cells of amniocentesis, chorionic villus, or umbilical cord blood. The obtained sample can be observed under a fluorescent microscope. This study helps in the detection of numeric abnormalities of chromosomes known as aneuploidy. It can also be used for microdeletion, mapping of genes, karyotyping, and gene amplification.

  • Molecular Detection: This technique-sensitive procedure helps in identifying mutations at the DNA level. Around one lakh cells are collected to carry out this test. A small amount of whole or dried blood is enough for polymerase chain reaction (PCR) amplification. Helps in the diagnosis of single gene mutations, as seen in the case of Mendelian disorder.

  • Direct Gene Diagnosis: Detected in the presence of the normal and mutated genes. It is further cloned, and its sequence of nucleotides is identified. The main disadvantage of this study is the absence of defective genes due to multifactorial (polygenic) factors. This technique helps to identify heterozygous or homozygous mutant genes passed to the next generation. These studies have been used in Huntington's disease and adult polycystic disease. Single-nucleotide polymorphism (SNP) is again a genetic marker to observe transmission from parent to child. It has been used to study diseases like diabetes, hypertension, and heart disease.

What Are the Management of Pediatric Conditions?

  • Early diagnosis of gene defect before clinical manifestation.

  • Ultrasonography (USG) detection.

  • Avoiding drugs causing toxicity or fetal abnormalities in children.

  • Post-delivery handling of the baby with utmost care.

  • Blood tests.

  • Timely vaccination status.


Most pediatric conditions cause mortality in larger numbers. Hence the early detection and prevention of such conditions is the need of the hour. A healthy generation marks the healthy growth of the community. Awareness programs, early screening, and accessibility of treatment to every class of society are required. New global and governmental policies promoting the health sector are welcomed.

Frequently Asked Questions


What Are Fetal Structural Abnormalities?

Fetal structural abnormalities are the physical birth defects that occur in the mother's womb. These defects occur when a baby does not develop normally. Most birth defects occur in the first trimester of pregnancy due to various health and genetic issues. Birth defects may include cleft lip, cleft palate, heart defects, missing limbs, etc.


What Are the Possible Causes Of Structural Birth Defects?

The causes of a few birth defects may be known, but for many of the birth defects, the exact cause is not known. The known causes of birth defects include environmental factors, genetic issues, deficiency of few nutrients, and smoking and alcohol consumption.


What Are the Common Deformities?

The most common birth defects include heart defects, neural tube malformation, and Down syndrome. Down syndrome is a condition characterized by delays in developmental and intellectual ability. Most congenital abnormalities are due to mutations or defects in the genetic coding.


Will A Scan Tell if Baby Is Disabled?

An ultrasound scan done during pregnancy can show possible congenital defects. But the ultrasound may not always give 100 % accurate results. In a few cases, the ultrasound scan with abnormalities also shows similar images as such as the normal fetus. Few genetic tests can also help to find out birth defects.


What Are the Two possible Environmental Factors That Are Likely to Affect Gene Expression?

Environmental factors such as infections and few medications increase the risk of miscarriages and also increase the risks of birth defects. Other environmental factors such as nutritional deficiencies, alcoholism, diabetes, and obesity increase the risk of birth defects.


What Factors Cause Genetic Variation?

The factors that cause genetic variation include the mutations and recombinations that occur during the cell division called meiosis, various mutagens, such as chemical and biological, play a vital role in genetic mutations. A mutation is a sudden change in DNA. Random mating may also be one of the causes of genetic variation.


What Is Pediatric Treatment?

Pediatrics is a department that relates to diseases and treatment plans in children starting from birth to adolescents. The treatments that are done in children are called pediatric treatments. Pediatric treatment plans vary a lot from adult treatment plans.


What Are the Pediatric Conditions?

The conditions that occur in children are called pediatric conditions. A few conditions seen commonly in children include anemia, asthma, chickenpox, measles, mumps, pneumonia, polio, Diptheria, whooping cough, cystic fibrosis, candidiasis, bronchiolitis, dental caries, Down syndrome, and leukemia.


What Antibiotics Are Commonly Used in Pediatric Patients?

The first line of antibiotics for the pediatric patient includes Amoxicillin and Penicillin. In the children with non-type 1 hypersensitivity to Penicillin, antibiotics commonly recommended are Cephalexin, Cefadroxil, Clindamycin, Clarithromycin, and Azithromycin.


Why Pediatric Care Is Important?

Pediatric care is one of the most important things that follow in every family. Children are more delicate and with low immunity, which increases the risk of various infections. Pediatric care is important because it benefits the child in overall health and welfare.


What Procedures Do Pediatricians Perform?

Most pediatricians do not perform any surgical procedures, and they only prescribe medications treating the condition. General and pediatric surgeons mostly do surgical procedures in children. Minor surgical procedures are done by the pediatricians in the hospital setup.


What Is Pediatric Pneumonia?

Pediatric pneumonia is an illness caused in the lungs by bacteria, viruses, and fungal infections. The symptoms include fever, difficulty in breathing, cough, tiredness, chest pain, and fatigue. The symptoms and the treatment plan of the condition may vary from child to child.


What Age Is Considered Paediatric?

One may be very curious to know what age group comes under pediatric. According to the American Association of Pediatrics, newborn to the age of 18 is considered to be pediatric. Newborns, infants, school-age children, adolescents, and teenagers up to 18 years of age come under the pediatric age group.
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Dr. Veerabhadrudu Kuncham
Dr. Veerabhadrudu Kuncham



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