Seckel Syndrome in a 9 Year Old Child

Abstract

Seckel Syndrome first defined by Seckel in 1959, is a rare (incidence 1:10000) genetically heterogeneous, autosomal recessive disorder presenting at birth. This syndrome is characterised by a proportionate dwarfism of prenatal onset, severe microcephaly with a bird headed appearance (beaked nose, receding forehead, prominent eyes and micrognathia) and mental retardation in addition to the characteristics craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular hematopoietic, endocrine, gastrointestinal and central nervous system. Usually such patients have poor psychomotor development.