Achondroplasia
Description
● General Information
•The most prevalent type of skeletal dysplasia, or short-limb dwarfism, is achondroplasia.
•The prevalence is about 1 in 15,000.
•Complete penetrance, autosomal dominant inheritance.
•De novo FGFR3 mutations account for 80% of cases (point mutations in >95%).
•Pathology: Short limbs, distinctive facial, dental, and skull features due to defective endochondral ossification.
● Characteristic Features
• The small stature is disproportionate.
• Frontal bossing, midface hypoplasia, flat nasal bridge, and large head (megalencephaly).
• Rhizomelic shortening of limbs and normal trunk length.
• Genu varum, lumbar lordosis, and trident hand position.
• Normal intelligence.
• Risk factors include obesity, sleep apnoea, cervicomedullary compression, and spinal stenosis.
● Case Report: Female 16-year-old
➣Complaints:Several lost teeth are the complaint.
➣Family history: The mother and sister are impacted.
➣History of birth: delayed gross motor milestones, huge dysmorphic head, normal delivery at 8.5 months.
➣ Anthropology:
• Height: 124 cm, which is lower than anticipated.
• 42 kg in weight.
• Arm span: 100 cm, which is less than the anticipated 124 cm.
• The circumference of the head is 58 cm.
➣Clinical characteristics: include trident hand, concave facial profile, midfacial hypoplasia, short stature, and abnormal gait.
➣Oral findings: include impacted canines, hypertonic lips, unerupted third molars, and oligodontia (only eight teeth erupted).
➣Radiographic findings: include frontal bossing, a large calvarium, and a short skull base.
Normal mandible, retruded maxilla.
Hand on X-ray with a trident.
● Discussion
➣Achondroplasia: non-lethal in heterozygous form, normal IQ, average adult height ~123 cm (female), 130 cm (male);
➣Gene: FGFR3 mutation → reduced cartilage proliferation, ossification abnormalities.
➣Dentinal results are typically normal, however occasionally there may be delayed eruption or malocclusion.
Oligodontia, or congenital tooth loss, is seen seldom.
➣ Literature: prior cases included trigeminal neuralgia, migrating glossitis, posterior crossbite, macroglossia, open bite, delayed eruption, and Class III malocclusion.
● Differential diagnosis: chondroectodermal dysplasia (differentiated by lack of trident hand and milder symptoms) and hypochondroplasia.
● Dental treatment requires:
Psychological management is necessary for dental therapy because of psychosocial concerns.
special measures (risk of respiratory problems, restricted neck extension, potential foramen magnum stenosis, and head control).
Protocol
● Management:
•Prosthodontic referral and genetic counselling.
• Handling side effects of treatment (e.g., GI symptoms, hand-foot syndrome, hypertension, general chemo/targeted toxicities)
● Nursing goals:
• Early adverse event detection and monitoring;
• Prevention of toxicity escalation;
• Promotion of patient comfort and compliance; and avoidance of problems
● Nursing interventions:
➣ Initial evaluation and tracking:
• Record baseline blood pressure, heart rate, ECG, skin integrity, hepatic and renal function, dermatological condition, and other organ function (CBC, liver enzymes, lipids) prior to the start of medication.
• Given the recognised risk of hypertension with anlotinib, check blood pressure often (e.g., weekly or more frequently early on).
• Regularly check for hand-foot syndrome symptoms on the skin, palms and soles.
• Keep an eye out for mucositis and other GI side symptoms, such as nausea, vomiting, diarrhoea, and anorexia.
• To identify haematologic or organ toxicity, frequently check complete blood counts, liver, kidney, and electrolytes.
➣Management of first-degree hypertension:
• Instruct the patient to keep an eye on their blood pressure at home and to report any excessive readings.
• As directed, provide an antihypertensive (in this example, nifedipine sustained-release).
• Keep an eye out for symptoms of hypertensive problems, such as headache, lightheadedness, or changes in eyesight.
• Promote healthy lifestyle choices (low-sodium diet, hydration, and abstaining from stimulants).
• If necessary, work with your doctor to modify the antihypertensive dosage.
➣Hand-foot syndrome and toxicity related to the skin
• Teach people how to take care of their skin by washing it gently, avoiding hot water or friction, moisturising them often with emollients, wearing comfortable shoes, and avoiding pressure on the palms or soles.
• Notify the oncologist at the earliest indications of blistering, redness, or pain; dosage decrease or pauses may be necessary.
• As directed, apply topical medications (such as steroids and urea-based lotions).
• Prevent trauma by avoiding tight shoes or gloves, for example.
• Encourage the patient to report any early symptoms (pain, tingling, burning) and to examine their hands and feet every day.
➣Support for the digestive system, nausea, and anorexia:
• Proactively give antiemetics as directed, particularly prior to chemotherapy, even if the treatment in this instance is oral.
• If appetite is low, provide small, frequent meals or high-calorie, high-protein supplements.
• Teach them how to take care of their mouths, stay away from irritants, and drink enough of water.
• Track electrolytes, weight, and nutritional markers.
• If you have diarrhoea or constipation, use the prescribed medications (antidiarrheals or laxatives, if necessary) and keep your skin healthy.
➣Fatigue, bone marrow suppression, and general toxicity:
• Track CBC (white blood cells, neutrophils, and platelets) and keep an eye out for cytopenia symptoms (infection, bleeding).
• Inform people about the symptoms of illness (fever, chills, sore throat) and how to report them right away.
• Encourage a balance between rest and activity by allowing rest intervals.
• Promote healthy eating, drinking enough of water, and taking supplements as directed by a doctor.
• Offer psychological help and conduct an anxiety or depression assessment.
➣Support for oral treatment and medication adherence:
• Because anlotinib and TS-1 are both oral medications, make sure the patient is aware of the dosage schedule, what to do in the event that a dose is missed, possible drug interactions, and how to report adverse effects.
• To improve adherence, use pill boxes, diaries, or reminders.
• Keep an eye out for contraindications or interactions between medications.
• Inform the patient about toxicity symptoms and when to stop taking medication or get help.
➣Education and self-management for patients and carers:
•Instruct the patient and their family on how to check for adverse effects and when to contact the doctor.
• Offer textual resources and support instruction.
Encourage the patient to record their symptoms, such as blood pressure, skin changes, and gastrointestinal issues, in a symptom journal.
• Provide lifestyle education on infection prevention, rest, hydration, and nutrition.
● Symptom control & quality of life maintenance
➣ Nursing objectives:
• Prevent or alleviate symptoms (pain, nausea, jaundice, and nutritional deficiencies);
• Preserve comfort and functional status;
• Promote psychological health
● Nursing interventions:
➣ Assessing and managing pain:
• Regularly use standardised pain measures, such as the NRS, both before and after analgesic treatments.
• Carefully titrate analgesics (opioids and non-opioids) in accordance with doctor's directions.
• Employ non-pharmacologic interventions, such as positioning, relaxation methods, and warm/cold compresses.
• Keep an eye out for and treat analgesic side effects, such as constipation.
➣ Monitoring and relief of biliary obstruction symptoms / jaundice:
• Monitor liver function tests, bilirubin levels.
• Observe for signs of cholestasis (itching/ pruritus, dark urine, pale stools).
• Provide skin care for pruritus (moisturizers, antihistamines as per order).
• Monitor nutritional absorption and educate on fat-soluble vitamin supplementation if needed.
• Monitor for complications (e.g. ascending cholangitis) and report promptly.
➣Assistance with nutrition
• Determine the baseline nutritional status by measuring serum albumin/prealbumin, weight, and BMI.
• Regularly check consumption and weight.
• Work with a dietitian to give a diet that is high in calories and protein; if required, think about enteral feeding or oral supplements.
• Handle gastrointestinal side symptoms or nausea that interfere with ingestion.
• Promote favourite nutrient-dense foods and frequent, modest meals.
• Keep an eye on your level of hydration and make sure you're getting enough fluids.
➣ Fatigue and functional maintenance: Use fatigue scales to gauge your degree of weariness.
• Promote energy-saving techniques (work prioritisation, rest intervals).
• To preserve muscular strength, promote mild exercise as tolerated (walking, physical therapy).
• Keep an eye out for and treat anaemia or other relevant conditions.
• Offer counselling, psychological help, and support service referrals.
➣ Coping and psychosocial support:
• Regularly evaluate emotional state, distress, anxiety, and depression.
•Offer counselling or provide referrals to psychiatric and oncology social workers.
• Educate patients on the condition, expected course of therapy, managing adverse effects, and prognosis.
• Promote carers' and support groups' participation.
•When necessary, support talks about palliative care or advance care planning.
➣Surveillance and illness progression monitoring
•As directed by oncologists, arrange for scheduled imaging (CT scans) and tumour marker testing (such as CA19-9).
• Keep an eye out for symptoms of metastases, weight loss, new discomfort, and GI blockage as indicators that the illness is getting worse.
•Record modifications and notify the oncology team of any early indications of advancement.
•Help coordinate interdisciplinary treatment (pharmacy, nutrition, imaging, palliative care, and oncology).
● Coordination, communication, and continuity of care
➣Nursing goals:
Ensure smooth transitions of care (inpatient ↔ outpatient)
Promote multidisciplinary collaboration
Facilitate patient follow-up and reassessments
→Nursing interventions:
➣Coordination of care
• Communicate with primary care, palliative care, physiotherapy, radiation, pharmacy, nutritionist, and oncologist.
• Assist with arranging lab testing, imaging, and follow-up appointments.
• Ensure that the patient and team are promptly informed of test results and imaging findings.
➣Self-care planning and patient education
• Provide a documented care plan that includes a summary of the emergency contact procedures, side effect monitoring, and therapy schedule.
• Instruct the patient on when to seek emergency care (e.g., severe symptoms, haemorrhage, fever, uncontrolled hypertension).
• Promote adherence to follow-up and appointment scheduling.
• At transitions, review and reconcile medicines (look for dosage modifications, interactions, and duplications).
➣Reporting and documentation
• Keep thorough records of all evaluations, treatments, adverse effects, dosage adjustments, and symptoms as reported by patients.
Toxicology checklists and other standardised oncology nursing documentation tools should be used.
• Inform doctors of adverse effects as soon as possible; if they are severe or uncontrollable, escalate.
➣Follow-up monitoring
•Set up routine evaluations (labs, imaging, and vitals) in accordance with oncology policy.
• Keep an eye out for chronic toxicity.
• Assure the maintenance of follow-up and survivorship care (quality-of-life monitoring, supportive care).
Notes
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