Seckel Syndrome in a 9 Year Old Child

Abstract

Seckel Syndrome fir st de fined by Secke l in 19 59, is a rare (incidenc e 1:10000) gene ticallyhe terogene ous, autosomal recessive disorder presenting at birth. This syndrome is cha racterised by aproportionate dwarfism of prenatal onset, severe microcephaly with a birdheaded appearance (beakednose, receding forehead, prominent eyes and microgna thia) and mental retardation in addition to thecha racteristics craniofacial dysmorphism and ske letal de fects, abnormalities ha ve been described inthe cardiovascular hematopoietic, endocrine, gastrointestinal and central nervous system. Usua llysuc h pa tie nts have poor ps ychomotorde ve lopment.