A 12 year old girl with acrodysostosis: a rare cause of short stature

Acrodysostosis is a rare disease, first described in 1968, characterized by short hands and feet with peripheral dysostosis, small nose and mental retardation 1. Although inherited as an autosomal dominant disorder 2 most are new mutations. There are just over 50 published cases 2. Case story A 12 year old girl was brought for investigation of learning difficulty and short stature. Apart from this she had no medical problems. The child had been adopted at one year of age and details about her biological parents were not available. Adopted parents got the baby routinely checked through a medical practitioner prior to adoption and no medical problems were identified. There were no concerns regarding her early development. The child was slow to learn at school. Sh