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Inventi Impact - Neonatal & Pediatric Nursing

Articles

  • Inventi:hnpn/21846/17
    ACHONDROPLASIA – A CASE REPORT
    Blessy Varghese*

    Achondroplasia is a rare genetic condition that results in abnormally short stature. This is characterized by macrocephaly with a prominent forehead (frontal bossing), flat (depressed) nasal bridge, short upper arms and legs (rhizomelic dwarfism), unusually prominent abdomen and buttocks and short hands with fingers that assume a "trident" or three-pronged position during extension. This is caused by mutations in the FGFR3 gene. There can be number of complications including hydrocephalus, apnea, and upper-airway obstruction. Achondroplasia does not cause any impairment or deficiencies in mental abilities. This can be diagnosed before birth by fetal ultrasound or after birth by complete medical history and physical examination. There’s no cure or specific treatment for achondroplasia. Growth hormone therapy may result in a transient increase in growth rate but not effective in significantly increasing stature. Nutritional counseling is helpful. Caring for a child with a rare genetic disorder often has profound effects on health professionals as well as their families. The children require holistic approach to lead a normal life and cope up with medical and social challenges of life. Nurses can play a vital role in identification, diagnosis, Coordination of Care, Health Teaching and Health Promotion, Counseling and referral. This case report highlights this rare anomaly and its manifestations.

    How to Cite this Article
    Blessy Varghese. Achondroplasia – A Case Report. Inventi Impact: Neonatal & Pediatric Nursing, 2017(2):64-65, 2017.
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