The patient is a nine-year old boy, the first child of unrelated parents. There is no family history of mental retardation, malformation, stillbirth, or miscarriage. He was born at forty weeks gestation by spontaneous delivery after an uneventful pregnancy. The fetal ultrasonogram was normal. Birth weight was 2600g and  length 49 cm,There were no perinatal complications. In the neonatal period  fish like mouth, microretrognathia,  generalized hypotonia, feeding difficulties and  hemihypotrophia of the left part of the facies and the body were noted. He had marked developmental delay: sitting unsupported  at 18 months,  walking at 30 months, speaking in sentences after 36 months, motor clumsiness.

            Reevaluation at the age of five years showed that he had become obese and showed psychomotor retardation. Analysis in blood cells chromosomes with FISH for Prader-Willi syndrome showed 2 SNRPN signals and no evidence of deletion in the 15q11.2 region. The karyotype was  46,XY.

At 9 years he was examined again at our department.  The facial asymmetry,downward slanting palpebral fissures, prominent nasal bridge, high and narrow palate, short  philtrum and open mouth  were the main characteristic of his face The thorax was asymmetric with marked scoliosis. He had truncal and lower segmental obesity,his head circumference was 53.0 cm and height was 121.0 cm. Mild camptodactyly of the fingers, syndactyly of the second and third toes and micropenis were the other dysmorphic features. The boy was developmentally delayed and attended a special school.  Psychological testing showed maladaptive behavior and attention deficit hyperactivity disorder, IQ 66.

            Radiological study showed  slender metacarpal bones, delayed bone age while ophthalmologic examination showed generally pale fundus and mild blepharoptosis. Cardiac, endocrine and  hematological investigations gave normal results as did a computerized tomography scan.