SAETHRE–CHOTZEN SYNDROME

Saethre–Chotzen syndrome (SCS) is an inherited autosomal dominant genetic disorder associated with craniosynostosis caused by microdeletion of 7p21 chromosome resulted from novel mutations and abnormalities may be influenced by parental age. It is characterized by droopy eyelids (ptosis), widely separated eyes (hypertelorism), and modest hand and foot deformities (syndactyly). It is diagnosed prenatal period using aminocentesis and chorionic vili sampling. The overall diagnosis of SCS is primarily based on clinical findings and observations based on dysmorphology examination and radiographic evaluation. Cranioplasty is the only management for this disorder, after cranial reconstruction surgery child may be needed to wear a moulding helmet or other kind of head protection until the cranial bones have settled into position.