A Case of Organophosphate Poisoning Diagnosed as Achondroplasia with Severe Calcified Aortic Stenosis
Authors: Sakhamuri Srikanth , Arora Aakash , Sirohi TR 
Published: February 2025

Achondroplasia is a genetic disorder characterized by abnormal bone growth, leading to disproportionate short stature. It is the most common form of dwarfism, with an incidence of approximately 1 in 15,000–40,000 live births. Etiology and Genetics: Achondroplasia is caused by mutations in the FGFR3 gene, which encodes the fibroblast growth factor receptor 3. This gene mutation is autosomal dominant, meaning only one copy of the altered gene is sufficient to cause the disorder. Most cases (about 80%) result from de novo mutations, where there is no family history of the condition. Pathophysiology: The FGFR3 mutation leads to an abnormality in the development and maintenance of bone and brain tissue. FGFR3 normally regulates bone growth by limiting the formation of bone from cartilage, especially in the long bones. The mutation causes this regulation to go awry, resulting in the characteristic shortened limbs and other skeletal abnormalities. Clinical Features: Individuals with achondroplasia have a distinctive appearance marked by:

Disproportionately short stature, with an average adult height of around 4 feet

Short arms and legs, particularly the upper arms and thighs

Large head size with a prominent forehead (frontal bossing)

Midface hypoplasia with a flattened nasal bridge

Spinal abnormalities, including lordosis and kyphosis.

Additional complications can include ear infections, sleep apnea, obesity, and spinal stenosis, which can cause pain and neurologic symptoms. Diagnosis is primarily clinical and based on characteristic physical features. Genetic testing can confirm the presence of FGFR3 mutations. Prenatal diagnosis is possible through ultrasound and genetic testing if there is a known risk. A 52-year-old male patient from Meerut city, Uttar Pradesh, presented to Lokpriya hospital with a history of ingestion of organophosphate (op) compound with vomiting, salivation, and shortness of breath for 1 day; clinical findings were suggestive of op poisoning and managed conservatively. Routine blood investigations and workup were done and were within normal range. The patient was short statured with height – 104 cm, arm span – 145 cm, weight of the patient – 42 kg; anteroposterior diameter of the chest – 12 cm, and transverse diameter of the chest – 18 cm; b/l chest expansion was reduced; clinically, diagnosis was made of achondroplasia. Radiological imaging (chest X-ray) was done which showed cardiomegaly, in both domes, and on examination, an incidental murmur was detected in the aortic area which was radiating to the right carotid suggestive of valvular heart disease; to confirm it, two-dimensional echo was done which revealed severe calcific aortic stenosis. This case highlights the importance of early diagnosis and multidisciplinary care in managing achondroplasia. With appropriate medical support, individuals with achondroplasia can lead healthy, productive lives. Ongoing research into targeted therapies may offer new treatment options in the future.