Careful examination of the infant and a detailed history from his mother indicated that they were both affected by Beals syndrome (congenital contractural arachnodactyly).
Key Words: congenital contractural arachnodactyly, Beals syndrome, "crumpled ear," fibrillin-2 protein
This history and physical indicated that Beals syndrome, also known as congenital contractural arachnodactyly (CCA), affected them both.
Cross-referencing these anomalies with the index in Smith's Recognizable Patterns of Human Malformations indicated Beals syndrome as the likely cause.
6) Other features of Beals syndrome include osteopenia, narrow elongated body habitus, pectus excavatum or cavinatum, muscular hypoplasia, micrognathia, and highly arched palate.
A careful examination of the infant and history from the mother revealed that both were afflicted with Beals syndrome.
Beals syndrome is classified amongst a large group of arthrogryposes, which includes Marfan syndrome.