Patients of Treacher Collins syndrome
- Patient Serial No - 1
Age:
1
Sex:
male
Location:
dhaka
Clinical Features:
Patient has multiple congenital anomalies Difficulty in swallowing resulted in never being breastfed Patient was not immunized Ill looking, mildly pale, and dyspneic Anterior fontanelle open Bilateral microtia Facial dysmorphism including downward-slanting eyes, malar hypoplasia, micrognathia, and large fishlike mouth Pectus carinatum and chest indrawing Breath sounds vesicular with prolonged expiration Crepitation and ronchi in both lungs Scaphoid abdomen Severely underweight, wasted, and stunted Moderate anemia (hemoglobin 8.45 gm/dl) Serum electrolytes were within normal limit X-ray chest showed consolidation at the mid-zone of the right lung Eye findings included coloboma and absent puncta on lower eyelids Constant epiphora due to atresia of lacrimal duct
treatement and management:
Nutritional support through nago-gastric tube feeding Vitamins and micronutrients Parenteral antibiotics for systemic infection Eye drops for the treatment of eye anomalies Nebulization with salbutamol solution for respiratory distress Gradual introduction of oral feeding with simultaneous tube feeding Regular monitoring and adjustments to the feeding plan Counseling provided to the family Advised follow-up for further treatment of hearing loss and reconstructive surgery of facial anomalies.