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 genetic5 percent chromosomal10 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 lengthLimited abduction

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Congenital Hip Dislocation Treatment

Closed reductionMaintenance of normal position by use of a

splint or cast for 2 to 3 monthsSurgery 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

SymptomsEnlargement of infant head and bulging eyesTight scalp and prominent head veinsShrill high-pitched cry and unable to lift headMental retardation

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Hydrocephalus

TreatmentSurgery to place shunt from brain to

peritoneal cavity to drain excess fluid

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Cerebral Palsy

Congenital bilateral paralysisInadequate blood or oxygen supply to brain

during fetal development

Symptoms Hyperactive reflexes and muscle contractionMuscle weakness and “scissors gait”

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Cerebral Palsy

No cure Treatment

Physical and speech therapyOrthopedic cast, braces, and surgeryAnticonvulsants and muscle relaxants

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Spina Bifida

Congenital disorderOpening in spinal column

Forms of spina bifidaSpina bifida occultaMeningoceleMyelomengiocele

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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 defectsAtrial and Ventricular Septal DefectsPatent Ductus ArteriosusCoarctation of the AortaTetralogy of Fallot

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Cardiovascular

Types of defectsRight ventricle hypertrophyVentricle septal defectAbnormal placement of aorta

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Digestive

Types of digestive malformationsMeckel’s Diverticulum: outpouching of

diverticulum of ileumEsophageal atresia: abnormal esophagusCongenital diaphragmatic herniaImperforate anus

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Developmental Malformations Cleft Lip - formerly called “harelip”

One or more splits in upper lipAffects boys more frequently girlsTreatment is surgical repair

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Developmental Malformations Cleft Palate

More serious than cleft lipInvolves roof of mouthTreatment 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

SymptomsChronic constipationAbdominal distention

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Hirschsprung’s Disease

Treatment Surgical removal of the affected segmentTemporary 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 birthTesting 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

SymptomsNot diagnosed until puberty due to abnormal

male sexual developmentSmall penis and testes

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Klinefelter’s Syndrome

SymptomsEnlarged breastsAbsent or scant body hairImpaired intelligence

TreatmentTestosterone therapy

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Cystic Fibrosis

Hereditary disorder: affects exocrine glands causing viscous secretions

Treatment Postural drainageChest clappingAntibiotics, bronchodilators, expectorants,

and oxygen

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Down Syndrome

Formerly called “mongolism” Symptoms

Mild to severe mental retardationFlat nasal bridge, low-set ears, slanted eyesEpicanthus 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

SymptomsWeight loss or failure to gain weight,

anorexiaIrritabilityVomiting, diarrhea, weak, “rag doll” limpness

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Failure to Thrive

SymptomsUnresponsiveness to affectionWary of parents or caregiversAvoid eye contactStiffen when cuddled

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Failure to Thrive

TreatmentTeaching 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

SymptomsVarying degrees of mental retardationDecreased physical development

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Fetal Alcohol Syndrome

SymptomsIrritability in infantsHyperactivity in older childrenMicrocephalyIncreased incidence of ventricular septal

defects

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