A 10.5-year-old girl, the first child of healthy (report­edly) non consanguineous and phenotypically normal par­ents, was initially examined for short stature. The parents originated from an isolated region of Greece. Her father (51 years old) measured 185 cm and her mother (41 years old) measured 165 cm (target height 166 cm). There was no remarkable family history of congenital birth defects, multiple miscarriages or other genetic or endocrine disor­ders. The patient was born at term after an uncomplicated 40-week pregnancy, labor and delivery. At birth, her length was 45 cm (<3rd percentile), the weight 2700 gr (<3rd percentile) and the head circumference 35 cm (50th percentile). The postnatal course was uneventful. Her psychomotor development was normal.

At 10.5 years her height was 129 cm (<3rd percen­tile), weight 32 kg (25th percentile) and head circumfer­ence 52.5 cm (50th percentile). The bone age was 8.8 years. The breast and pubic hair development were Tanner stage I. The only clinical stigmata were mildly short neck and shield chest. Her intelligence was normal and her school progress was good.