Table 2 Present and past signs and symptoms of the patient

Cardiovascular

• Ventricular septal defect at birth which was restricted spontaneously

• Easily fatigued

• Abdomen and lower limbs telangectasia (Fig. 2)

Urogenital

• Inguinal herniation on both sides at birth which had been repaired uncomplicated

Skin

• Facial, rectal and thoracic abcess at birth

• Visible superficial veins

ENT

• Recurrent otitis leading to current hearing loss

Facial features

• Low-set ears (Fig. 3)

• Low hairline (Fig. 3)

• Broad nasal bridge

Respiratory system

• History of several episodes of pneumonia that made him bed-ridden but none were severe

• No history of bronchitis

Gastrointestinal

• Current chronic diarrhea

Other

• Recurrent fever

• Failure to thrive