Correspondence to: Professor P M Dunn. William Little was born in 1810 in Whitechapel where his father kept the Red Lion Inn. He was educated at a school near Dover and at the Jesuit College of St Omer in France. A left club-foot following poliomyelitis prevented sporting activities but he excelled academically, especially in languages. In 1825 he was apprenticed to an apothecary, after which h...

BACKGROUND Myotonic Dystrophy Type 1 (DM1) is the most common form of hereditary myopathy presenting in adults. This autosomal-dominant systemic disorder is caused by a CTG repeat, demonstrating various symptoms. A mild, classic and congenital form can be distinguished. Often the quality of life is reduced by orthopaedic problems, such as muscle weakness, contractures, foot or spinal deformitie...

Ring chromosomes are rare chromosomal disorders that usually appear to occur de novo. A ring chromosome forms when due to deletion both ends of chromosome fuse with each other. Depending on the amount of chromosomal deletion, the clinical manifestations may be different. So, ring 18 syndrome is characterized by severe mental growth retardation as well as microcephaly, brain and ocular malformat...

Helmut Seckel described Seckel syndrome (SS) which is an autosomal recessive disorder and characterized by cleft lip and palate, club foot, scoliosis, gastrointestinal malformations, and multiple skeletal malformations.[1,2] Other accompanying anomalies are severe microcephaly, craniofacial dysmorphism with characteristic bird headed appearance, prominent beaked triangular nose, micrognathia, v...