BGDD

26

male

Patient complaints: • High-grade fever • Productive cough with purulent, foul-smelling sputum • Exertional respiratory distress • History: • Frequent attacks of similar problems for the last 7-8 years • Skeletal deformity since childhood Physical examination findings: • Chest asymmetry with flattening of anterior chest wall on the right side • Absence of pectoralis major muscle • Deformed right foot with only 3 fused fingers • Short and webbed fingers on the right hand (symbrachydactyly) • Normal configuration on the left side of the body • Bilateral coarse crepitations on respiratory system examination • Forceful apex beat in left 5th intercostal space, loud pulmonary component of second heart sound, and presence of faint systolic murmur in tricuspid and mitral area on cardiovascular system examination • Normal findings on alimentary and nervous system examinations, including normal intelligence Family history: • No history of similar disorder • No history of consanguinity of marriage between parents

Renal function test normal; liver function test normal; blood sugar normal; CBC- Neutrophilic leucocytosis; haemoglobin normal; platelet count normal

• Treated conservatively and respiratory symptoms were improved • No surgical treatment was offered

• CXR P/A view- bilateral extensive cystic bronchiectasis with minimal pleural effusion • X-ray right hand- Distal & middle phalanges of index, middle, ring & little finger and distal phalanx of thumb is hypoplastic. Joint spaces are reduced with bony ankylosis between distal & middle phalanges of index, ring & little finger- congenital defect • X-ray right foot – Foot is deformed. Hypoplastic 1 st metatarsal & aplasia of phalanges of great & 2nd toe is noted. Hypoplasia of distal phalanx of 2nd & 3rd toe is noted • USG of whole abdomen- Normal study • Colour Doppler Echocardiography- Mitral valve prolapse with Tricuspid regurgitation & moderate pulmonary hypertension. Left ventricular function – normal