Seckel syndrome

Abstract

Seckel's syndrome or bird-headed dwarfism is a rare (<1:10.000) malformation inherited as an autosomal recessive trait. It is characterized by short stature, mental retardation, microcephaly, prominent beaklike nose, large eyes and micrognathia. A 6 year-old girl was referred to us because of short stature. Her birth weight was 1050 grams. Severe growth deficiency, microcephaly, micrognathia, prominent nose, large eyes and elbow joint movement limitation were main findings in this case. She had no mental retardation. The main radiologic findings consisted of fibula hypoplasia, clinodactyly, radial head dislocation and delayed bone age