Short Stature-Obesity Syndrome

Schinzel and Bernasconi (1990) reported the cases of a 13-year-old boy and his 28-year-old sister who had short stature, obesity, and a pattern of minor anomalies including a sloping, narrow forehead; small ears; narrow nose with prominent bridge and long septum; receding mandible; and short limbs with brachydactyly and clinodactyly of the fifth fingers. Intelligence was normal. The parents were normal but remotely consanguineous. Both had hypermetropia. The sister was 138 cm tall and managed the family's butchery. At age 22, the brother had reached the height of 142 cm.