A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation
A 12-year-old boy was referred for congenital skeletal abnormalities and heart disease associated with development delay and moderate mental retardation. The patient was a third child to healthy non consanguineous Caucasian parents. Birth weight and birth height were normal. He was born with congenital scoliosis due to segmented hemivertebra between the tenth and twelfth thoracic vertebrae and had an atrial septal defect which regressed spontaneously at the age of one year.\nAt the age of 10 months, he developed bilateral synostosis of the proximal radius and ulna. The progression of the scoliosis and the poor cosmetic appearance indicated that an operation was necessary. At the age of 6 years, he underwent a surgical correction for the hemivertebra.\nOn our physical examination at 12 years of age, his height was 160 cm (75th centile), weight 68.6 kg (>97th centile) and his head circumference was 52 cm (10th centile). He had subtle minor facial dysmorphism, namely, slight hypertelorism, bilateral epicanthic folds, a flat nasal bridge and full lower lip, long philtrum [Figure –] and a high palate. He had moderate mental retardation and presented gynecomastia with truncal obesity []. In addition, he had a scoliosis and presented limitation of supination at the elbows [Figure and ].\nX-ray examination of the spine and the upper limbs was performed. It showed a persistent scoliosis due to segmented hemivertebra between tenth and twelfth thoracic vertebrae [Figure and ]. The radiography of the upper limbs showed synostosis of the proximal radius and ulna, associated with dislocation of both radial heads [Figure and ].