BGDD

1

male

facial dysmorphism like flat nasal bridge, upward slanting of palpebral fissure, epicanthic fold, low set ears. The infant also had broad and short hand with clinodactyly, simian crease, wide sandal gap. There was no dehydration and abnormal skin pigmentation. Weight was 5.2kg (just below 3rd centile), length was 60 cm (on 5th centile), OFC was 39 cm (below 3rd centile, Z score was - 2.4),weight for length in between 10th and 25th centile. The length of his phallus was a 1.5 cm (>- 2.5 SD), glans was not well formed, no pit at tip, urethral opening was at perineum, scrotum was bifid, both testes were palpable at scrotum and size of each testis was 2ml. The child had a systolic murmur along left upper sternal edge and he was hypotonic and had global developmental delay.

Serum Electrolytes Serum Sodium 135 mmol/L 135-145 mmol/l Serum Potassium 4.2 mmol/L 3.5-5.1 mmol/l Serum Chloride 105 mmol/L 95-107 mmol/l Serum Tco2 24 mmol/L 22-30mmol/l Random blood sugar 5.8 mmol/L 3.5-6.0 mmol/L Basal Cortisol 170nmol/L 138-690