Anatomy and Physiology
Cell nucleus: 46 chromosomes or 23
pairs
 Most somatic cells have ability to
reproduce through mitosis

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Anatomy and Physiology
Approximately 2 percent of newborns
are born with congenital anomalies
 Causes

 20 percent genetic
 5 percent chromosomal
 10 percent environmental
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Diagnostic Tests
Ultrasound of fetus: detects
malformations
 Amniotic fluid: reveals genetic and
chromosomal disorders
 Maternal blood: reveals abnormal fetal
substances

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Muscular Dystrophy
Genetic degeneration of muscles
 Most common type is Duchenne’s MD
 Onset between two and five years of
age
 No cure
 Treatment: physical therapy, orthopedic
devices, exercise

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Congenital Hip Dislocation
Abnormal hip joint resulting in femoral
head slipping out of normal position
 Symptoms

 Infant exhibits asymmetrical folds of affected
thigh
 Difference in leg length
 Limited abduction
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Congenital Hip Dislocation

Treatment
 Closed reduction
 Maintenance of normal position by use of a
splint or cast for 2 to 3 months
 Surgery in older children
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Osteogenesis Imperfecta
Inherited condition of abnormally brittle
bones leading to fractures
 No cure

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Hydrocephalus
Abnormal accumulation of cerebrospinal
fluid in brain due to obstruction
 Symptoms

 Enlargement of infant head and bulging eyes
 Tight scalp and prominent head veins
 Shrill high-pitched cry and unable to lift head
 Mental retardation
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Hydrocephalus

Treatment
 Surgery to place shunt from brain to
peritoneal cavity to drain excess fluid
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Cerebral Palsy

Congenital bilateral paralysis
 Inadequate blood or oxygen supply to brain
during fetal development

Symptoms
 Hyperactive reflexes and muscle contraction
 Muscle weakness and “scissors gait”
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Cerebral Palsy
No cure
 Treatment

 Physical and speech therapy
 Orthopedic cast, braces, and surgery
 Anticonvulsants and muscle relaxants
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Spina Bifida

Congenital disorder
 Opening in spinal column

Forms of spina bifida
 Spina bifida occulta
 Meningocele
 Myelomengiocele
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Cardiovascular
Defects may be small or quite large
 Early diagnosis and surgery improved
dramatically, reducing mortality rate

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Cardiovascular

Types of defects
 Atrial and Ventricular Septal Defects
 Patent Ductus Arteriosus
 Coarctation of the Aorta
 Tetralogy of Fallot
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Cardiovascular

Types of defects
 Right ventricle hypertrophy
 Ventricle septal defect
 Abnormal placement of aorta
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Digestive

Types of digestive malformations
 Meckel’s Diverticulum: outpouching of
diverticulum of ileum
 Esophageal atresia: abnormal esophagus
 Congenital diaphragmatic hernia
 Imperforate anus
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Developmental Malformations

Cleft Lip - formerly called “harelip”
 One or more splits in upper lip
 Affects boys more frequently girls
 Treatment is surgical repair
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Developmental Malformations

Cleft Palate
 More serious than cleft lip
 Involves roof of mouth
 Treatment is surgical
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Pyloric Stenosis
Narrowing of lower end of stomach
 Common anomaly of digestive tract
 Symptom: projectile vomiting
 Treatment: pylorotomy

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Hirschsprung’s Disease
Absence of nerves in segment of colon;
usually sigmoid colon
 Symptoms

 Chronic constipation
 Abdominal distention
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Hirschsprung’s Disease

Treatment
 Surgical removal of the affected segment
 Temporary colostomy may be necessary to
allow adequate healing of colon
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Phenylketonuria
Genetic disorder: faulty metabolism of
the protein phenylalanine
 Diagnosis

 PKU blood testing 72 hours after birth
 Testing is mandatory in United States

Lack of treatment: mental retardation
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Hypospadias

Abnormal congenital opening of male
urinary meatus
 Opens under surface of penis
Mild cases can be left untreated
 Surgical repair is treatment of choice for
severe cases

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Wilm’s Tumor
Most common solid tumor affecting
children and infants
 Highly malignant and usually replaces
one whole kidney
 Treatment involves chemotherapy and
surgery

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Turner’s Syndrome
Chromosomal disorder: females have
only one X chromosome rather than XX
 Ovaries are either abnormal or absent
 Treatment: reduce growth with
hormones and estrogen therapy

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Klinefelter’s Syndrome
Chromosomal disorder: affected males
have extra X chromosome
 Symptoms

 Not diagnosed until puberty due to abnormal
male sexual development
 Small penis and testes
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Klinefelter’s Syndrome

Symptoms
 Enlarged breasts
 Absent or scant body hair
 Impaired intelligence

Treatment
 Testosterone therapy
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Cystic Fibrosis
Hereditary disorder: affects exocrine
glands causing viscous secretions
 Treatment

 Postural drainage
 Chest clapping
 Antibiotics, bronchodilators, expectorants,
and oxygen
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Down Syndrome
Formerly called “mongolism”
 Symptoms

 Mild to severe mental retardation
 Flat nasal bridge, low-set ears, slanted eyes
 Epicanthus
 Thick protruding tongue
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Down Syndrome
Abnormal extremities
 Organ defects
 No cure

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Failure to Thrive
Lack of physical growth and
development in infant or child
 Symptoms

 Weight loss or failure to gain weight,
anorexia
 Irritability
 Vomiting, diarrhea, weak, “rag doll” limpness
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Failure to Thrive

Symptoms
 Unresponsiveness to affection
 Wary of parents or caregivers
 Avoid eye contact
 Stiffen when cuddled
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Failure to Thrive

Treatment
 Teaching mothering and nurturing behaviors
to mother/parents
 Promotion of self-esteem
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Fetal Alcohol Syndrome
Birth defects to child due to mother
consuming alcohol during pregnancy
 Symptoms

 Varying degrees of mental retardation
 Decreased physical development
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Fetal Alcohol Syndrome

Symptoms
 Irritability in infants
 Hyperactivity in older children
 Microcephaly
 Increased incidence of ventricular septal
defects
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