Chpt 2 - Dev / Congen / Childhood Flashcards
In 1 sentence, what is ROP?
ROP, or retrolental fibroplasia, is an abnormal growth of the blood vessels in the retinas of the infant’s eyes. The condition occurs in the eyes of premature infants.
Explain the etiology of ROP
The vascularization of the retina begins at the back central part of the eye, as vessels grow out toward the edges. The blood vessels to the retina do not begin development until about the 28th week of gestation. In premature infants, this vascularization is incomplete.
Treatment of ROP?
Most mild forms of ROP resolve without treatment. Laser treatment to the area anterior to the vascular shunt eliminates abnormal vessels before they deposit enough scar tissue to cause retinal detachment. Severe cases may require other procedures.
Mild forms of ROP may resolve by themselves. Name 3 other conditions which might occur later in life.
- Crossed or wandering eyes (strabismus)
- “Lazy eye” (amblyopia)
- Nearsightedness (myopia)
- Glaucoma
- Late-onset retinal detachment.
Many of these children may require corrective glasses.
Describe the typical clinical picture of a Robinow Syndrome (RS) patient.
Robinow syndrome is a condition of small stature and related incidence of interorbital distance, bulging (bossing) forehead, depressed nasal bridge, malaligned teeth, and short limbs. Other manifestations of the syndrome may be present.
Describe in detail the medical manifestation of RS based on skeletal / spinal / head / eyes & ears.
Boc 2.1 on page 57.
Skeletal System
• Mild to moderate short stature (dwarfism)
• Short lower arms (mesomelic brachymelia)
• Small hands with clinodactyly usually of the fifth finger (abnormal lateral or medial bending of one or more fingers or toes) and brachydactyly (abnormally short fingers or toes)
• Small feet
Spinal Malformations
• Vertebral segmentation defects
• Dominant—at most a single butterfly vertebra
• Recessive—multiple vertebral segmentation defects (always multiple rib anomalies, fusions)
• Hemivertebrae, vertebral fusions, narrow interpediculate distances
Abnormalities of the Head and Facial Area
(Craniofacial, Fetal Face)
• Flat facial profile with larger head (macrocephaly not necessarily associated with hydrocephaly)
• Prominent or bulging forehead with widely spaced eyes Short, upturned nose with anteverted nostrils and
flat nasal bridge
• Wide triangular mouth; long philtrum with broad horizontal upper lip in the dominant form, short philtrum with an inverted V-shaped or tented upper lip in the recessive form
• Crowded, misaligned teeth and gum hypertrophy
Eyes and Ears
• Hypertelorism/hypoplastic, or shortened, S-shaped lower eyelids giving the impression of prominent eyes
• Ears are sometimes cup-shaped, flapped, and/or low-set
Genital Hypoplasia
• Males often have an underdeveloped penis, sometimes only visible when the surrounding skin is retracted
• Undescended testicles
• In females, the clitoris and labia minora (sometimes labia majora) are underdeveloped (hypoplastic)
What treatment is available for RS?
This genetic condition has no cure. Treatment involves addressing any treatable conditions, such as dental abnormalities, cleft palate, and orthopedic conditions including scoliosis. Genetic counseling may be recommended. For those with problems of self-image due to short stature and other typical abnormalities, psychosocial counseling could be recommended.
Name 2 symptoms and treatments of hypertrophic cardiomyopathy (HCM).
Symptoms: chest pain, syncope, hypertension, palpitations, SOB.
Treatment: Beta-blockers & calcium channel blockers.; avoid strenuous exercise.
Cause of HCM
Genetic: autosomal dominant.
Etiology of HCM
A portion of the myocardium becomes thickened without any obvious cause. The normal alignment of
the myocardial cells is disturbed (myocardial disarray),
resulting in disruption of cardiac electrical impulses. This genetic disease is an inherited autosomal dominant trait.
Name the 2 most common forms of muscular dystrophy, and name the cause of the disease
Duchenne vs. Beckers; genetic defect where we observe an absence of the protein dystrophin which is involved in maintaining the integrity of muscle; affects only males but females are the carriers (1/3 get this).
What is muscular dystrophy?
Muscular dystrophy (MD) is a progressive degeneration and weakening of the skeletal muscles where muscle fibers are abnormally vulnerable to injury. There are several types of the disease, but all are rare. The most common and best-known type is Duchenne MD, which is diagnosed soon after birth or during early childhood, usually before the age of 5 years.
How do you treat MD?
Physical therapy, exercise, surgery, and the use of orthopedic appliances can minimize deformities and preserve mobility. Corticosteroids may be prescribed to slow muscle degeneration. Seizures and some muscle activity may be controlled by anticonvulsants, delaying some damage to dying muscle cells may occur with use of immunosuppressants, and respiratory infections are warded off by antibiotics.
What is believed to be the cause of Spina Bifida Occulta?
The etiology of this congenital anomaly is unknown, but it has been associated with exposure to ionizing radiation during early uterine life. Reduced levels of vitamin A and folic acid consumed during pregnancy
may contribute to the incidence of spina bifida.
How do you treat SPO?
other than prudent observation throughout the child’s growth and development. Treatment depends on the degree of neurologic involvement. If the child becomes symptomatic with neurologic problems, surgical intervention to repair the defect is necessary.
